Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145312_44145319delinsTCCTCCCA , CM000669.2:g.44145312_44145319delinsTCCTCCCA	GRCh38
NC_000007.13:g.44184911_44184918delinsTCCTCCCA , CM000669.1:g.44184911_44184918delinsTCCTCCCA	GRCh37
NC_000007.12:g.44151436_44151443delinsTCCTCCCA	NCBI36
NG_008847.1:g.49105_49112delinsTGGGAGGA
NG_008847.2:g.57852_57859delinsTGGGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1252-39_1252-32delinsTGGGAGGA	ENSP00000379142.4:n.1252-39_1252-32delinsTGGGAGGA
ENST00000616242.5:c.374-39_374-32delinsTGGGAGGA	ENSP00000482149.2:n.374-39_374-32delinsTGGGAGGA
ENST00000683378.1:n.480-39_480-32delinsTGGGAGGA
ENST00000336642.9:c.288-39_288-32delinsTGGGAGGA	ENSP00000338009.5:n.288-39_288-32delinsTGGGAGGA
ENST00000345378.7:c.1257-39_1257-32delinsTGGGAGGA	ENSP00000223366.2:n.1257-39_1257-32delinsTGGGAGGA
ENST00000403799.8:c.1254-39_1254-32delinsTGGGAGGA MANE Select	ENSP00000384247.3:n.1254-39_1254-32delinsTGGGAGGA
ENST00000671824.1:c.1317-39_1317-32delinsTGGGAGGA	ENSP00000500264.1:n.1317-39_1317-32delinsTGGGAGGA
ENST00000672743.1:n.266-39_266-32delinsTGGGAGGA
ENST00000673284.1:c.1254-39_1254-32delinsTGGGAGGA	ENSP00000499852.1:n.1254-39_1254-32delinsTGGGAGGA
ENST00000336642.8:c.306-39_306-32delinsTGGGAGGA	ENSP00000338009.4:n.306-39_306-32delinsTGGGAGGA
ENST00000345378.6:c.1257-39_1257-32delinsTGGGAGGA	ENSP00000223366.2:n.1257-39_1257-32delinsTGGGAGGA
ENST00000395796.7:c.1251-39_1251-32delinsTGGGAGGA	ENSP00000379142.3:n.1251-39_1251-32delinsTGGGAGGA
ENST00000403799.7:c.1254-39_1254-32delinsTGGGAGGA	ENSP00000384247.3:n.1254-39_1254-32delinsTGGGAGGA
ENST00000437084.1:c.1203-39_1203-32delinsTGGGAGGA	ENSP00000402840.1:n.1203-39_1203-32delinsTGGGAGGA
ENST00000459642.1:n.634-39_634-32delinsTGGGAGGA
ENST00000616242.4:c.1251-39_1251-32delinsTGGGAGGA	ENSP00000482149.1:n.1251-39_1251-32delinsTGGGAGGA
NM_000162.3:c.1254-39_1254-32delinsTGGGAGGA	NP_000153.1:n.1254-39_1254-32delinsTGGGAGGA
NM_033507.1:c.1257-39_1257-32delinsTGGGAGGA	NP_277042.1:n.1257-39_1257-32delinsTGGGAGGA
NM_033508.1:c.1251-39_1251-32delinsTGGGAGGA	NP_277043.1:n.1251-39_1251-32delinsTGGGAGGA
NM_000162.4:c.1254-39_1254-32delinsTGGGAGGA	NP_000153.1:n.1254-39_1254-32delinsTGGGAGGA
NM_001354800.1:c.1254-39_1254-32delinsTGGGAGGA	NP_001341729.1:n.1254-39_1254-32delinsTGGGAGGA
NM_001354801.1:c.243-39_243-32delinsTGGGAGGA	NP_001341730.1:n.243-39_243-32delinsTGGGAGGA
NM_001354802.1:c.114-39_114-32delinsTGGGAGGA	NP_001341731.1:n.114-39_114-32delinsTGGGAGGA
NM_001354803.1:c.288-39_288-32delinsTGGGAGGA	NP_001341732.1:n.288-39_288-32delinsTGGGAGGA
NM_033507.2:c.1257-39_1257-32delinsTGGGAGGA	NP_277042.1:n.1257-39_1257-32delinsTGGGAGGA
NM_033508.2:c.1251-39_1251-32delinsTGGGAGGA	NP_277043.1:n.1251-39_1251-32delinsTGGGAGGA
XM_024446707.1:c.114-39_114-32delinsTGGGAGGA	XP_024302475.1:n.114-39_114-32delinsTGGGAGGA
NM_000162.5:c.1254-39_1254-32delinsTGGGAGGA MANE Select	NP_000153.1:n.1254-39_1254-32delinsTGGGAGGA
NM_033507.3:c.1257-39_1257-32delinsTGGGAGGA	NP_277042.1:n.1257-39_1257-32delinsTGGGAGGA
NM_033508.3:c.1251-39_1251-32delinsTGGGAGGA	NP_277043.1:n.1251-39_1251-32delinsTGGGAGGA
NM_001354803.2:c.288-39_288-32delinsTGGGAGGA	NP_001341732.1:n.288-39_288-32delinsTGGGAGGA