Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895693_226895694insTGGCACTAG , CM000663.2:g.226895693_226895694insTGGCACTAG	GRCh38
NC_000001.10:g.227083394_227083395insTGGCACTAG , CM000663.1:g.227083394_227083395insTGGCACTAG	GRCh37
NC_000001.9:g.225150017_225150018insTGGCACTAG	NCBI36
NG_007381.1:g.30122_30123insTGGCACTAG
NG_012825.2:g.3158_3159insTGGCACTAG
NG_007381.2:g.30510_30511insTGGCACTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.114_115insTGGCACTAG	ENSP00000355741.2:n.114_115insTGGCACTAG
ENST00000366782.6:c.114_115insTGGCACTAG	ENSP00000355746.2:n.114_115insTGGCACTAG
ENST00000366783.8:c.114_115insTGGCACTAG MANE Select	ENSP00000355747.3:n.114_115insTGGCACTAG
ENST00000471728.2:n.2099_2100insTGGCACTAG
ENST00000524196.6:c.114_115insTGGCACTAG	ENSP00000429036.2:n.114_115insTGGCACTAG
ENST00000626989.3:c.114_115insTGGCACTAG	ENSP00000486498.2:n.114_115insTGGCACTAG
ENST00000676467.1:c.1288_1289insTGGCACTAG	ENSP00000504294.1:n.1288_1289insTGGCACTAG
ENST00000676747.1:c.1188+1568_1188+1569insTGGCACTAG	ENSP00000503244.1:n.1188+1568_1188+1569insTGGCACTAG
ENST00000676884.1:c.114_115insTGGCACTAG	ENSP00000503200.1:n.114_115insTGGCACTAG
ENST00000676888.1:c.802_803insTGGCACTAG	ENSP00000504483.1:n.802_803insTGGCACTAG
ENST00000676907.1:c.1040_1041insTGGCACTAG	ENSP00000504410.1:n.1040_1041insTGGCACTAG
ENST00000676945.1:c.1191+1568_1191+1569insTGGCACTAG	ENSP00000504433.1:n.1191+1568_1191+1569insTGGCACTAG
ENST00000677065.1:n.2022_2023insTGGCACTAG
ENST00000677414.1:c.114_115insTGGCACTAG	ENSP00000503116.1:n.114_115insTGGCACTAG
ENST00000677529.1:n.3191_3192insTGGCACTAG
ENST00000677596.1:c.1683_1684insTGGCACTAG	ENSP00000503618.1:n.1683_1684insTGGCACTAG
ENST00000677599.1:c.1191+1568_1191+1569insTGGCACTAG	ENSP00000503673.1:n.1191+1568_1191+1569insTGGCACTAG
ENST00000677748.1:n.3716_3717insTGGCACTAG
ENST00000677880.1:c.114_115insTGGCACTAG	ENSP00000503121.1:n.114_115insTGGCACTAG
ENST00000678021.1:c.1084_1085insTGGCACTAG	ENSP00000504674.1:n.1084_1085insTGGCACTAG
ENST00000678233.1:c.8+106_8+107insTGGCACTAG	ENSP00000504728.1:n.8+106_8+107insTGGCACTAG
ENST00000678320.1:c.114_115insTGGCACTAG	ENSP00000503680.1:n.114_115insTGGCACTAG
ENST00000678655.1:c.1092+1568_1092+1569insTGGCACTAG	ENSP00000504230.1:n.1092+1568_1092+1569insTGGCACTAG
ENST00000678706.1:c.838_839insTGGCACTAG	ENSP00000503659.1:n.838_839insTGGCACTAG
ENST00000678776.1:c.1598_1599insTGGCACTAG	ENSP00000504624.1:n.1598_1599insTGGCACTAG
ENST00000678784.1:c.1073-2027_1073-2026insTGGCACTAG	ENSP00000504652.1:n.1073-2027_1073-2026insTGGCACTAG
ENST00000678820.1:c.1089+1568_1089+1569insTGGCACTAG	ENSP00000504138.1:n.1089+1568_1089+1569insTGGCACTAG
ENST00000678835.1:c.757-2027_757-2026insTGGCACTAG	ENSP00000504343.1:n.757-2027_757-2026insTGGCACTAG
ENST00000679088.1:c.114_115insTGGCACTAG	ENSP00000504727.1:n.114_115insTGGCACTAG
ENST00000679098.1:c.8+106_8+107insTGGCACTAG	ENSP00000504303.1:n.8+106_8+107insTGGCACTAG
ENST00000366782.5:c.114_115insTGGCACTAG	ENSP00000355746.1:n.114_115insTGGCACTAG
ENST00000366783.7:c.114_115insTGGCACTAG	ENSP00000355747.3:n.114_115insTGGCACTAG
ENST00000422240.6:c.114_115insTGGCACTAG	ENSP00000403737.2:n.114_115insTGGCACTAG
ENST00000626989.2:c.1560_1561insTGGCACTAG	ENSP00000486498.1:n.1560_1561insTGGCACTAG
NM_000447.2:c.114_115insTGGCACTAG	NP_000438.2:n.114_115insTGGCACTAG
NM_012486.2:c.114_115insTGGCACTAG	NP_036618.2:n.114_115insTGGCACTAG
XM_005273199.2:c.114_115insTGGCACTAG	XP_005273256.1:n.114_115insTGGCACTAG
XM_011544236.1:c.114_115insTGGCACTAG	XP_011542538.1:n.114_115insTGGCACTAG
XM_005273199.4:c.114_115insTGGCACTAG	XP_005273256.1:n.114_115insTGGCACTAG
XM_017001835.1:c.114_115insTGGCACTAG	XP_016857324.1:n.114_115insTGGCACTAG
XM_017001836.1:c.114_115insTGGCACTAG	XP_016857325.1:n.114_115insTGGCACTAG
XR_001737316.2:n.1478-2027_1478-2026insTGGCACTAG
XR_001737317.2:n.1478-2027_1478-2026insTGGCACTAG
XR_001737318.2:n.2176_2177insTGGCACTAG
XR_001737319.1:n.2519_2520insTGGCACTAG
XR_001737320.1:n.2516_2517insTGGCACTAG
XR_001737321.1:n.2011_2012insTGGCACTAG
XR_949149.2:n.2173_2174insTGGCACTAG
XR_949150.3:n.2392_2393insTGGCACTAG
NM_000447.3:c.114_115insTGGCACTAG MANE Select	NP_000438.2:n.114_115insTGGCACTAG
NM_012486.3:c.114_115insTGGCACTAG	NP_036618.2:n.114_115insTGGCACTAG

HGVS	Amino-acid change
ENST00000366779.6:c.114_115insTGGCACTAG	ENSP00000355741.2:n.114_115insTGGCACTAG
ENST00000366782.6:c.114_115insTGGCACTAG	ENSP00000355746.2:n.114_115insTGGCACTAG
ENST00000366783.8:c.114_115insTGGCACTAG MANE Select	ENSP00000355747.3:n.114_115insTGGCACTAG
ENST00000471728.2:n.2099_2100insTGGCACTAG
ENST00000524196.6:c.114_115insTGGCACTAG	ENSP00000429036.2:n.114_115insTGGCACTAG
ENST00000626989.3:c.114_115insTGGCACTAG	ENSP00000486498.2:n.114_115insTGGCACTAG
ENST00000676467.1:c.1288_1289insTGGCACTAG	ENSP00000504294.1:n.1288_1289insTGGCACTAG
ENST00000676747.1:c.1188+1568_1188+1569insTGGCACTAG	ENSP00000503244.1:n.1188+1568_1188+1569insTGGCACTAG
ENST00000676884.1:c.114_115insTGGCACTAG	ENSP00000503200.1:n.114_115insTGGCACTAG
ENST00000676888.1:c.802_803insTGGCACTAG	ENSP00000504483.1:n.802_803insTGGCACTAG
ENST00000676907.1:c.1040_1041insTGGCACTAG	ENSP00000504410.1:n.1040_1041insTGGCACTAG
ENST00000676945.1:c.1191+1568_1191+1569insTGGCACTAG	ENSP00000504433.1:n.1191+1568_1191+1569insTGGCACTAG
ENST00000677065.1:n.2022_2023insTGGCACTAG
ENST00000677414.1:c.114_115insTGGCACTAG	ENSP00000503116.1:n.114_115insTGGCACTAG
ENST00000677529.1:n.3191_3192insTGGCACTAG
ENST00000677596.1:c.1683_1684insTGGCACTAG	ENSP00000503618.1:n.1683_1684insTGGCACTAG
ENST00000677599.1:c.1191+1568_1191+1569insTGGCACTAG	ENSP00000503673.1:n.1191+1568_1191+1569insTGGCACTAG
ENST00000677748.1:n.3716_3717insTGGCACTAG
ENST00000677880.1:c.114_115insTGGCACTAG	ENSP00000503121.1:n.114_115insTGGCACTAG
ENST00000678021.1:c.1084_1085insTGGCACTAG	ENSP00000504674.1:n.1084_1085insTGGCACTAG
ENST00000678233.1:c.8+106_8+107insTGGCACTAG	ENSP00000504728.1:n.8+106_8+107insTGGCACTAG
ENST00000678320.1:c.114_115insTGGCACTAG	ENSP00000503680.1:n.114_115insTGGCACTAG
ENST00000678655.1:c.1092+1568_1092+1569insTGGCACTAG	ENSP00000504230.1:n.1092+1568_1092+1569insTGGCACTAG
ENST00000678706.1:c.838_839insTGGCACTAG	ENSP00000503659.1:n.838_839insTGGCACTAG
ENST00000678776.1:c.1598_1599insTGGCACTAG	ENSP00000504624.1:n.1598_1599insTGGCACTAG
ENST00000678784.1:c.1073-2027_1073-2026insTGGCACTAG	ENSP00000504652.1:n.1073-2027_1073-2026insTGGCACTAG
ENST00000678820.1:c.1089+1568_1089+1569insTGGCACTAG	ENSP00000504138.1:n.1089+1568_1089+1569insTGGCACTAG
ENST00000678835.1:c.757-2027_757-2026insTGGCACTAG	ENSP00000504343.1:n.757-2027_757-2026insTGGCACTAG
ENST00000679088.1:c.114_115insTGGCACTAG	ENSP00000504727.1:n.114_115insTGGCACTAG
ENST00000679098.1:c.8+106_8+107insTGGCACTAG	ENSP00000504303.1:n.8+106_8+107insTGGCACTAG
ENST00000366782.5:c.114_115insTGGCACTAG	ENSP00000355746.1:n.114_115insTGGCACTAG
ENST00000366783.7:c.114_115insTGGCACTAG	ENSP00000355747.3:n.114_115insTGGCACTAG
ENST00000422240.6:c.114_115insTGGCACTAG	ENSP00000403737.2:n.114_115insTGGCACTAG
ENST00000626989.2:c.1560_1561insTGGCACTAG	ENSP00000486498.1:n.1560_1561insTGGCACTAG
NM_000447.2:c.114_115insTGGCACTAG	NP_000438.2:n.114_115insTGGCACTAG
NM_012486.2:c.114_115insTGGCACTAG	NP_036618.2:n.114_115insTGGCACTAG
XM_005273199.2:c.114_115insTGGCACTAG	XP_005273256.1:n.114_115insTGGCACTAG
XM_011544236.1:c.114_115insTGGCACTAG	XP_011542538.1:n.114_115insTGGCACTAG
XM_005273199.4:c.114_115insTGGCACTAG	XP_005273256.1:n.114_115insTGGCACTAG
XM_017001835.1:c.114_115insTGGCACTAG	XP_016857324.1:n.114_115insTGGCACTAG
XM_017001836.1:c.114_115insTGGCACTAG	XP_016857325.1:n.114_115insTGGCACTAG
XR_001737316.2:n.1478-2027_1478-2026insTGGCACTAG
XR_001737317.2:n.1478-2027_1478-2026insTGGCACTAG
XR_001737318.2:n.2176_2177insTGGCACTAG
XR_001737319.1:n.2519_2520insTGGCACTAG
XR_001737320.1:n.2516_2517insTGGCACTAG
XR_001737321.1:n.2011_2012insTGGCACTAG
XR_949149.2:n.2173_2174insTGGCACTAG
XR_949150.3:n.2392_2393insTGGCACTAG
NM_000447.3:c.114_115insTGGCACTAG MANE Select	NP_000438.2:n.114_115insTGGCACTAG
NM_012486.3:c.114_115insTGGCACTAG	NP_036618.2:n.114_115insTGGCACTAG