Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359941_19359948delinsCCCAGCCA , CM000685.2:g.19359941_19359948delinsCCCAGCCA	GRCh38
NC_000023.10:g.19378059_19378066delinsCCCAGCCA , CM000685.1:g.19378059_19378066delinsCCCAGCCA	GRCh37
NC_000023.9:g.19287980_19287987delinsCCCAGCCA	NCBI36
NG_016781.1:g.21049_21056delinsCCCAGCCA
NG_021184.1:g.160314_160321delinsTGGCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.288_295delinsCCCAGCCA	ENSP00000348062.6:n.288_295delinsCCCAGCCA
ENST00000423505.6:c.288_295delinsCCCAGCCA	ENSP00000406473.2:n.288_295delinsCCCAGCCA
ENST00000696704.1:c.793_800delinsCCCAGCCA	ENSP00000512823.1:n.793_800delinsCCCAGCCA
ENST00000696705.1:c.916_923delinsCCCAGCCA	ENSP00000512824.1:n.916_923delinsCCCAGCCA
ENST00000422285.7:c.288_295delinsCCCAGCCA MANE Select	ENSP00000394382.2:n.288_295delinsCCCAGCCA
ENST00000379806.9:c.288_295delinsCCCAGCCA	ENSP00000369134.5:n.288_295delinsCCCAGCCA
ENST00000422285.6:c.288_295delinsCCCAGCCA	ENSP00000394382.2:n.288_295delinsCCCAGCCA
ENST00000540249.5:c.288_295delinsCCCAGCCA	ENSP00000440761.1:n.288_295delinsCCCAGCCA
ENST00000545074.5:c.288_295delinsCCCAGCCA	ENSP00000438550.1:n.288_295delinsCCCAGCCA
NM_000284.3:c.288_295delinsCCCAGCCA	NP_000275.1:n.288_295delinsCCCAGCCA
NM_001173454.1:c.288_295delinsCCCAGCCA	NP_001166925.1:n.288_295delinsCCCAGCCA
NM_001173455.1:c.288_295delinsCCCAGCCA	NP_001166926.1:n.288_295delinsCCCAGCCA
NM_001173456.1:c.288_295delinsCCCAGCCA	NP_001166927.1:n.288_295delinsCCCAGCCA
XM_011545531.1:c.288_295delinsCCCAGCCA	XP_011543833.1:n.288_295delinsCCCAGCCA
XM_011545532.1:c.288_295delinsCCCAGCCA	XP_011543834.1:n.288_295delinsCCCAGCCA
NM_000284.4:c.288_295delinsCCCAGCCA MANE Select	NP_000275.1:n.288_295delinsCCCAGCCA
NM_001173454.2:c.288_295delinsCCCAGCCA	NP_001166925.1:n.288_295delinsCCCAGCCA
NM_001173455.2:c.288_295delinsCCCAGCCA	NP_001166926.1:n.288_295delinsCCCAGCCA
NM_001173456.2:c.288_295delinsCCCAGCCA	NP_001166927.1:n.288_295delinsCCCAGCCA

HGVS	Amino-acid Change
ENST00000355808.10:c.288_295delinsCCCAGCCA	ENSP00000348062.6:n.288_295delinsCCCAGCCA
ENST00000423505.6:c.288_295delinsCCCAGCCA	ENSP00000406473.2:n.288_295delinsCCCAGCCA
ENST00000696704.1:c.793_800delinsCCCAGCCA	ENSP00000512823.1:n.793_800delinsCCCAGCCA
ENST00000696705.1:c.916_923delinsCCCAGCCA	ENSP00000512824.1:n.916_923delinsCCCAGCCA
ENST00000422285.7:c.288_295delinsCCCAGCCA MANE Select	ENSP00000394382.2:n.288_295delinsCCCAGCCA
ENST00000379806.9:c.288_295delinsCCCAGCCA	ENSP00000369134.5:n.288_295delinsCCCAGCCA
ENST00000422285.6:c.288_295delinsCCCAGCCA	ENSP00000394382.2:n.288_295delinsCCCAGCCA
ENST00000540249.5:c.288_295delinsCCCAGCCA	ENSP00000440761.1:n.288_295delinsCCCAGCCA
ENST00000545074.5:c.288_295delinsCCCAGCCA	ENSP00000438550.1:n.288_295delinsCCCAGCCA
NM_000284.3:c.288_295delinsCCCAGCCA	NP_000275.1:n.288_295delinsCCCAGCCA
NM_001173454.1:c.288_295delinsCCCAGCCA	NP_001166925.1:n.288_295delinsCCCAGCCA
NM_001173455.1:c.288_295delinsCCCAGCCA	NP_001166926.1:n.288_295delinsCCCAGCCA
NM_001173456.1:c.288_295delinsCCCAGCCA	NP_001166927.1:n.288_295delinsCCCAGCCA
XM_011545531.1:c.288_295delinsCCCAGCCA	XP_011543833.1:n.288_295delinsCCCAGCCA
XM_011545532.1:c.288_295delinsCCCAGCCA	XP_011543834.1:n.288_295delinsCCCAGCCA
NM_000284.4:c.288_295delinsCCCAGCCA MANE Select	NP_000275.1:n.288_295delinsCCCAGCCA
NM_001173454.2:c.288_295delinsCCCAGCCA	NP_001166925.1:n.288_295delinsCCCAGCCA
NM_001173455.2:c.288_295delinsCCCAGCCA	NP_001166926.1:n.288_295delinsCCCAGCCA
NM_001173456.2:c.288_295delinsCCCAGCCA	NP_001166927.1:n.288_295delinsCCCAGCCA