Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23166048_23166049delinsTA , CM000669.2:g.23166048_23166049delinsTA	GRCh38
NC_000007.13:g.23205667_23205668delinsTA , CM000669.1:g.23205667_23205668delinsTA	GRCh37
NC_000007.12:g.23172192_23172193delinsTA	NCBI36
NG_016983.1:g.65315_65316delinsTA
NG_016983.2:g.65315_65316delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+110_1177+111delinsTA MANE Select	ENSP00000343273.4:n.1177+110_1177+111delinsTA
ENST00000339077.9:c.1177+110_1177+111delinsTA	ENSP00000343273.4:n.1177+110_1177+111delinsTA
ENST00000409689.5:c.1033+110_1033+111delinsTA	ENSP00000386263.1:n.1033+110_1033+111delinsTA
ENST00000469576.1:n.64+110_64+111delinsTA
ENST00000521082.5:c.1185+110_1185+111delinsTA	ENSP00000430351.1:n.1185+110_1185+111delinsTA
NM_001031710.2:c.1177+110_1177+111delinsTA	NP_001026880.2:n.1177+110_1177+111delinsTA
NM_018846.4:c.1033+110_1033+111delinsTA	NP_061334.4:n.1033+110_1033+111delinsTA
NR_033328.1:n.1601+110_1601+111delinsTA
XM_006715753.1:c.1216+110_1216+111delinsTA	XP_006715816.1:n.1216+110_1216+111delinsTA
XM_006715754.1:c.1150+110_1150+111delinsTA	XP_006715817.1:n.1150+110_1150+111delinsTA
XM_006715755.1:c.1150+110_1150+111delinsTA	XP_006715818.1:n.1150+110_1150+111delinsTA
XM_006715756.1:c.1072+110_1072+111delinsTA	XP_006715819.1:n.1072+110_1072+111delinsTA
XM_006715753.3:c.1216+110_1216+111delinsTA	XP_006715816.1:n.1216+110_1216+111delinsTA
XM_006715754.3:c.1150+110_1150+111delinsTA	XP_006715817.1:n.1150+110_1150+111delinsTA
XM_006715755.3:c.1150+110_1150+111delinsTA	XP_006715818.1:n.1150+110_1150+111delinsTA
XM_006715756.3:c.1072+110_1072+111delinsTA	XP_006715819.1:n.1072+110_1072+111delinsTA
XM_017012439.2:c.1111+110_1111+111delinsTA	XP_016867928.1:n.1111+110_1111+111delinsTA
NM_001031710.3:c.1177+110_1177+111delinsTA MANE Select	NP_001026880.2:n.1177+110_1177+111delinsTA
NM_018846.5:c.1033+110_1033+111delinsTA	NP_061334.4:n.1033+110_1033+111delinsTA
NR_033328.2:n.1550+110_1550+111delinsTA