Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137459121_137459122delinsTC , CM000671.2:g.137459121_137459122delinsTC	GRCh38
NC_000009.11:g.140353573_140353574delinsTC , CM000671.1:g.140353573_140353574delinsTC	GRCh37
NC_000009.10:g.139473394_139473395delinsTC	NCBI36
NG_021362.1:g.5213_5214delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265663.12:c.-20_-19delinsGA	ENSP00000265663.7:n.-20_-19delinsGA
ENST00000371475.9:c.-20_-19delinsGA MANE Select	ENSP00000360530.3:n.-20_-19delinsGA
ENST00000265663.11:c.-20_-19delinsGA	ENSP00000265663.7:n.-20_-19delinsGA
ENST00000371472.6:c.-20_-19delinsGA	ENSP00000360527.1:n.-20_-19delinsGA
ENST00000371473.7:c.-20_-19delinsGA	ENSP00000360528.3:n.-20_-19delinsGA
ENST00000371474.7:c.-20_-19delinsGA	ENSP00000360529.3:n.-20_-19delinsGA
ENST00000371475.7:c.-20_-19delinsGA	ENSP00000360530.3:n.-20_-19delinsGA
ENST00000437259.5:c.-20_-19delinsGA	ENSP00000412007.1:n.-20_-19delinsGA
NM_001130969.1:c.-20_-19delinsGA	NP_001124441.1:n.-20_-19delinsGA
NM_001130970.1:c.-20_-19delinsGA	NP_001124442.1:n.-20_-19delinsGA
NM_001130971.1:c.-20_-19delinsGA	NP_001124443.1:n.-20_-19delinsGA
NM_001178064.1:c.-20_-19delinsGA	NP_001171535.1:n.-20_-19delinsGA
NM_015537.4:c.-20_-19delinsGA	NP_056352.3:n.-20_-19delinsGA
XM_005266061.3:c.-20_-19delinsGA	XP_005266118.1:n.-20_-19delinsGA
XM_005266062.3:c.-20_-19delinsGA	XP_005266119.1:n.-20_-19delinsGA
XM_011518496.1:c.-20_-19delinsGA	XP_011516798.1:n.-20_-19delinsGA
XM_005266061.5:c.-20_-19delinsGA	XP_005266118.1:n.-20_-19delinsGA
XM_005266062.5:c.-20_-19delinsGA	XP_005266119.1:n.-20_-19delinsGA
XM_011518496.3:c.-20_-19delinsGA	XP_011516798.1:n.-20_-19delinsGA
NM_001130969.3:c.-20_-19delinsGA MANE Select	NP_001124441.1:n.-20_-19delinsGA
NM_001130970.2:c.-20_-19delinsGA	NP_001124442.1:n.-20_-19delinsGA
NM_001130971.2:c.-20_-19delinsGA	NP_001124443.1:n.-20_-19delinsGA
NM_001178064.2:c.-20_-19delinsGA	NP_001171535.1:n.-20_-19delinsGA
NM_015537.5:c.-20_-19delinsGA	NP_056352.3:n.-20_-19delinsGA