Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826304_88826353delinsCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGT , CM000678.2:g.88826304_88826353delinsCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGT	GRCh38
NC_000016.9:g.88892712_88892761delinsCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGT , CM000678.1:g.88892712_88892761delinsCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGT	GRCh37
NC_000016.8:g.87420213_87420262delinsCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGT	NCBI36
NG_008667.1:g.35614_35663delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+349_1139+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG MANE Select	ENSP00000268695.5:n.1139+349_1139+398delinsACCCCTGTCCGCCGCACC...
ENST00000268695.9:c.1139+349_1139+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	ENSP00000268695.5:n.1139+349_1139+398delinsACCCCTGTCCGCCGCACC...
ENST00000562593.5:n.4548+349_4548+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG
ENST00000564263.1:n.415+349_415+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG
ENST00000567525.5:c.820+349_820+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	ENSP00000454484.1:n.820+349_820+398delinsACCCCTGTCCGCCGCACCCC...
ENST00000568613.5:c.1258+349_1258+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	ENSP00000457921.1:n.1258+349_1258+398delinsACCCCTGTCCGCCGCACC...
NM_000512.4:c.1139+349_1139+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	NP_000503.1:n.1139+349_1139+398delinsACCCCTGTCCGCCGCACCCCTGTT...
XM_005256301.2:c.1139+349_1139+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	XP_005256358.1:n.1139+349_1139+398delinsACCCCTGTCCGCCGCACCCCT...
XM_005256302.1:c.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	XP_005256359.1:n.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCT...
XM_011522982.1:c.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	XP_011521284.1:n.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCT...
XM_011522984.1:c.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	XP_011521286.1:n.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCT...
NM_001323543.1:c.584+349_584+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	NP_001310472.1:n.584+349_584+398delinsACCCCTGTCCGCCGCACCCCTGT...
NM_001323544.1:c.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	NP_001310473.1:n.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCT...
XM_005256301.3:c.1139+349_1139+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	XP_005256358.1:n.1139+349_1139+398delinsACCCCTGTCCGCCGCACCCCT...
XM_011522982.2:c.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	XP_011521284.1:n.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCT...
XM_017023111.2:c.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	XP_016878600.1:n.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCT...
XM_017023112.2:c.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	XP_016878601.1:n.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCT...
XM_017023113.1:c.584+349_584+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	XP_016878602.1:n.584+349_584+398delinsACCCCTGTCCGCCGCACCCCTGT...
NM_000512.5:c.1139+349_1139+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG MANE Select	NP_000503.1:n.1139+349_1139+398delinsACCCCTGTCCGCCGCACCCCTGTT...
NM_001323543.2:c.584+349_584+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	NP_001310472.1:n.584+349_584+398delinsACCCCTGTCCGCCGCACCCCTGT...
NM_001323544.2:c.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCG	NP_001310473.1:n.1157+349_1157+398delinsACCCCTGTCCGCCGCACCCCT...