Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119030019_119030020delinsTA , CM000673.2:g.119030019_119030020delinsTA	GRCh38
NC_000011.9:g.118900729_118900730delinsTA , CM000673.1:g.118900729_118900730delinsTA	GRCh37
NC_000011.8:g.118405939_118405940delinsTA	NCBI36
NG_013331.1:g.5887_5888delinsTA , LRG_187:g.5887_5888delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.35-456_35-455delinsTA
ENST00000697846.1:n.35-456_35-455delinsTA
ENST00000697847.1:n.35-456_35-455delinsTA
ENST00000697848.1:n.35-456_35-455delinsTA
ENST00000697850.1:n.35-456_35-455delinsTA
ENST00000638360.1:n.43-456_43-455delinsTA
ENST00000638925.1:n.42-456_42-455delinsTA
ENST00000650539.1:n.210+150_210+151delinsTA
ENST00000330775.9:c.-195-456_-195-455delinsTA	ENSP00000476242.2:n.-195-456_-195-455delinsTA
ENST00000357590.9:c.-195-456_-195-455delinsTA	ENSP00000476176.2:n.-195-456_-195-455delinsTA
ENST00000525039.5:n.229-456_229-455delinsTA
ENST00000525102.5:n.562+212_562+213delinsTA
ENST00000527992.5:n.33-456_33-455delinsTA
ENST00000530407.5:n.25-456_25-455delinsTA
ENST00000532085.1:n.844_845delinsTA
ENST00000538950.5:c.-344-456_-344-455delinsTA	ENSP00000475991.2:n.-344-456_-344-455delinsTA
ENST00000545985.5:c.-196+212_-196+213delinsTA	ENSP00000475241.2:n.-196+212_-196+213delinsTA
NM_001164277.1:c.-196+212_-196+213delinsTA , LRG_187t1:c.-196+212_-196+213delinsTA	NP_001157749.1:n.-196+212_-196+213delinsTA
NM_001164278.1:c.-195-456_-195-455delinsTA	NP_001157750.1:n.-195-456_-195-455delinsTA
NM_001164279.1:c.-344-456_-344-455delinsTA	NP_001157751.1:n.-344-456_-344-455delinsTA
NM_001467.5:c.-195-456_-195-455delinsTA	NP_001458.1:n.-195-456_-195-455delinsTA
NM_001164278.2:c.-195-456_-195-455delinsTA	NP_001157750.1:n.-195-456_-195-455delinsTA
NM_001164279.2:c.-344-456_-344-455delinsTA	NP_001157751.1:n.-344-456_-344-455delinsTA
NM_001467.6:c.-195-456_-195-455delinsTA	NP_001458.1:n.-195-456_-195-455delinsTA
NM_001164277.2:c.-196+212_-196+213delinsTA MANE Select	NP_001157749.1:n.-196+212_-196+213delinsTA