Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813828_127813832delinsTCTCA , CM000671.2:g.127813828_127813832delinsTCTCA	GRCh38
NC_000009.11:g.130576107_130576111delinsTCTCA , CM000671.1:g.130576107_130576111delinsTCTCA	GRCh37
NC_000009.10:g.129615928_129615932delinsTCTCA	NCBI36
NG_009551.1:g.45937_45941delinsTGAGA , LRG_589:g.45937_45941delinsTGAGA
NG_023245.1:g.15954_15958delinsTCTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.224_228delinsTCTCA MANE Select	ENSP00000362344.2:n.224_228delinsTCTCA
ENST00000373225.7:c.224_228delinsTCTCA	ENSP00000362322.3:n.224_228delinsTCTCA
ENST00000373247.6:c.224_228delinsTCTCA	ENSP00000362344.2:n.224_228delinsTCTCA
ENST00000393706.6:c.224_228delinsTCTCA	ENSP00000377309.2:n.224_228delinsTCTCA
ENST00000460181.5:n.1976_1980delinsTCTCA
ENST00000467826.5:n.710-380_710-376delinsTCTCA
ENST00000630236.2:c.712_716delinsTCTCA	ENSP00000486766.1:n.712_716delinsTCTCA
NM_001018078.2:c.224_228delinsTCTCA	NP_001018088.1:n.224_228delinsTCTCA
NM_001288803.1:c.224_228delinsTCTCA	NP_001275732.1:n.224_228delinsTCTCA
NM_004957.5:c.224_228delinsTCTCA	NP_004948.4:n.224_228delinsTCTCA
NR_110170.1:n.2036_2040delinsTCTCA
XM_005251864.2:c.1484-380_1484-376delinsTCTCA	XP_005251921.1:n.1484-380_1484-376delinsT...
XM_011518437.1:c.224_228delinsTCTCA	XP_011516739.1:n.224_228delinsTCTCA
XM_011518438.1:c.224_228delinsTCTCA	XP_011516740.1:n.224_228delinsTCTCA
XM_011518439.1:c.224_228delinsTCTCA	XP_011516741.1:n.224_228delinsTCTCA
XR_242581.2:n.1885_1889delinsTCTCA
XR_242582.2:n.1381-380_1381-376delinsTCTCA
XM_005251864.4:c.1484-380_1484-376delinsTCTCA	XP_005251921.1:n.1484-380_1484-376delinsT...
XM_011518439.2:c.224_228delinsTCTCA	XP_011516741.1:n.224_228delinsTCTCA
XM_017014565.2:c.1334-380_1334-376delinsTCTCA	XP_016870054.1:n.1334-380_1334-376delinsT...
XM_017014566.1:c.224_228delinsTCTCA	XP_016870055.1:n.224_228delinsTCTCA
XR_242581.4:n.1883_1887delinsTCTCA
XR_242582.4:n.1379-380_1379-376delinsTCTCA
NM_004957.6:c.224_228delinsTCTCA MANE Select	NP_004948.4:n.224_228delinsTCTCA

HGVS	Amino-acid change
ENST00000373247.7:c.224_228delinsTCTCA MANE Select	ENSP00000362344.2:n.224_228delinsTCTCA
ENST00000373225.7:c.224_228delinsTCTCA	ENSP00000362322.3:n.224_228delinsTCTCA
ENST00000373247.6:c.224_228delinsTCTCA	ENSP00000362344.2:n.224_228delinsTCTCA
ENST00000393706.6:c.224_228delinsTCTCA	ENSP00000377309.2:n.224_228delinsTCTCA
ENST00000460181.5:n.1976_1980delinsTCTCA
ENST00000467826.5:n.710-380_710-376delinsTCTCA
ENST00000630236.2:c.712_716delinsTCTCA	ENSP00000486766.1:n.712_716delinsTCTCA
NM_001018078.2:c.224_228delinsTCTCA	NP_001018088.1:n.224_228delinsTCTCA
NM_001288803.1:c.224_228delinsTCTCA	NP_001275732.1:n.224_228delinsTCTCA
NM_004957.5:c.224_228delinsTCTCA	NP_004948.4:n.224_228delinsTCTCA
NR_110170.1:n.2036_2040delinsTCTCA
XM_005251864.2:c.1484-380_1484-376delinsTCTCA	XP_005251921.1:n.1484-380_1484-376delinsT...
XM_011518437.1:c.224_228delinsTCTCA	XP_011516739.1:n.224_228delinsTCTCA
XM_011518438.1:c.224_228delinsTCTCA	XP_011516740.1:n.224_228delinsTCTCA
XM_011518439.1:c.224_228delinsTCTCA	XP_011516741.1:n.224_228delinsTCTCA
XR_242581.2:n.1885_1889delinsTCTCA
XR_242582.2:n.1381-380_1381-376delinsTCTCA
XM_005251864.4:c.1484-380_1484-376delinsTCTCA	XP_005251921.1:n.1484-380_1484-376delinsT...
XM_011518439.2:c.224_228delinsTCTCA	XP_011516741.1:n.224_228delinsTCTCA
XM_017014565.2:c.1334-380_1334-376delinsTCTCA	XP_016870054.1:n.1334-380_1334-376delinsT...
XM_017014566.1:c.224_228delinsTCTCA	XP_016870055.1:n.224_228delinsTCTCA
XR_242581.4:n.1883_1887delinsTCTCA
XR_242582.4:n.1379-380_1379-376delinsTCTCA
NM_004957.6:c.224_228delinsTCTCA MANE Select	NP_004948.4:n.224_228delinsTCTCA