Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029373_119029374insAAA , CM000673.2:g.119029373_119029374insAAA	GRCh38
NC_000011.9:g.118900083_118900084insAAA , CM000673.1:g.118900083_118900084insAAA	GRCh37
NC_000011.8:g.118405293_118405294insAAA	NCBI36
NG_013331.1:g.6534_6535insTTT , LRG_187:g.6534_6535insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.226_227insTTT
ENST00000697846.1:n.226_227insTTT
ENST00000697847.1:n.226_227insTTT
ENST00000697848.1:n.226_227insTTT
ENST00000697849.1:n.470_471insTTT
ENST00000697850.1:n.226_227insTTT
ENST00000697851.1:n.470_471insTTT
ENST00000638186.1:n.300_301insTTT
ENST00000638360.1:n.234_235insTTT
ENST00000638925.1:n.233_234insTTT
ENST00000650539.1:n.402_403insTTT
ENST00000330775.9:c.-4_-3insTTT	ENSP00000476242.2:n.-4_-3insTTT
ENST00000357590.9:c.-4_-3insTTT	ENSP00000476176.2:n.-4_-3insTTT
ENST00000525039.5:n.420_421insTTT
ENST00000525102.5:n.754_755insTTT
ENST00000525787.1:n.292_293insTTT
ENST00000526626.6:n.192_193insTTT
ENST00000527992.5:n.224_225insTTT
ENST00000529510.5:n.15_16insTTT
ENST00000530407.5:n.197+19_197+20insTTT
ENST00000532085.1:n.1491_1492insTTT
ENST00000532888.6:n.192_193insTTT
ENST00000534384.1:n.217_218insTTT
ENST00000538950.5:c.-172+19_-172+20insTTT	ENSP00000475991.2:n.-172+19_-172+20insTTT
ENST00000545985.5:c.-4_-3insTTT	ENSP00000475241.2:n.-4_-3insTTT
NM_001164277.1:c.-4_-3insTTT , LRG_187t1:c.-4_-3insTTT	NP_001157749.1:n.-4_-3insTTT
NM_001164278.1:c.-4_-3insTTT	NP_001157750.1:n.-4_-3insTTT
NM_001164279.1:c.-172+19_-172+20insTTT	NP_001157751.1:n.-172+19_-172+20insTTT
NM_001164280.1:c.-4_-3insTTT	NP_001157752.1:n.-4_-3insTTT
NM_001467.5:c.-4_-3insTTT	NP_001458.1:n.-4_-3insTTT
NM_001164278.2:c.-4_-3insTTT	NP_001157750.1:n.-4_-3insTTT
NM_001164279.2:c.-172+19_-172+20insTTT	NP_001157751.1:n.-172+19_-172+20insTTT
NM_001164280.2:c.-4_-3insTTT	NP_001157752.1:n.-4_-3insTTT
NM_001467.6:c.-4_-3insTTT	NP_001458.1:n.-4_-3insTTT
NM_001164277.2:c.-4_-3insTTT MANE Select	NP_001157749.1:n.-4_-3insTTT