Canonical Allele Identifier: CA351430

Gene: ASCC1

Linked Data

• ClinVar Variation Id: 224639
• ClinVar RCV Id: RCV000210274 ; RCV001420207 ; RCV001781631
• dbSNP Id: rs753324947
• ExAC: 10:73970544 T / TC
• gnomAD v2: 10-73970544-T-TC
• gnomAD v3: 10-72210786-T-TC
• gnomAD v4: 10-72210786-T-TC
• MyVariant Identifiers: chr10:g.73970545dupC (hg19) ; chr10:g.73970544_73970545insC (hg19) ; chr10:g.72210787dupC (hg38) ; chr10:g.72210786_72210787insC (hg38)
• PubMed: PMID:26924529

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72210788dup , CM000672.2:g.72210788dup	GRCh38
NC_000010.10:g.73970546dup , CM000672.1:g.73970546dup	GRCh37
NC_000010.9:g.73640552dup	NCBI36
NG_031890.1:g.11348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317168.11:c.157dup	ENSP00000320810.7:p.Glu53GlyfsTer19
ENST00000671788.1:c.157dup	ENSP00000500906.1:p.Glu53GlyfsTer19
ENST00000672774.1:c.157dup	ENSP00000500488.1:p.Glu53GlyfsTer19
ENST00000672940.1:c.157dup	ENSP00000500074.1:p.Glu53GlyfsTer19
ENST00000672957.1:c.157dup MANE Select	ENSP00000500935.1:p.Glu53GlyfsTer19
ENST00000673599.1:c.157dup	ENSP00000499820.1:p.Glu53GlyfsTer19
ENST00000317126.8:c.157dup	ENSP00000320461.4:p.Glu53GlyfsTer19
ENST00000317168.10:c.157dup	ENSP00000320810.6:p.Glu53GlyfsTer19
ENST00000342444.8:c.157dup	ENSP00000339404.4:p.Glu53GlyfsTer19
ENST00000394915.7:c.157dup	ENSP00000378373.3:p.Glu53GlyfsTer19
ENST00000394919.5:c.157dup	ENSP00000378377.1:p.Glu53GlyfsTer19
ENST00000492502.2:n.764dup
ENST00000524829.5:c.157dup	ENSP00000431573.1:p.Glu53GlyfsTer19
ENST00000526751.5:c.157dup	ENSP00000431419.1:p.Glu53GlyfsTer19
ENST00000527593.5:c.157dup	ENSP00000432418.1:p.Glu53GlyfsTer19
ENST00000530461.5:c.40dup	ENSP00000431255.1:p.Glu14GlyfsTer19
ENST00000531048.5:c.112+2400dup	ENSP00000436098.1:n.112+2400dup
ENST00000532011.5:c.*123dup	ENSP00000434468.1:n.*123dup
ENST00000533958.1:c.157dup	ENSP00000431746.1:p.Glu53GlyfsTer?
NM_001198798.2:c.157dup	NP_001185727.1:p.Glu53GlyfsTer19
NM_001198799.2:c.157dup	NP_001185728.1:p.Glu53GlyfsTer19
NM_001198800.2:c.157dup	NP_001185729.1:p.Glu53GlyfsTer19
NR_045564.1:n.504dup
XM_006717873.2:c.157dup	XP_006717936.1:p.Glu53GlyfsTer19
XM_011539840.1:c.157dup	XP_011538142.1:p.Glu53GlyfsTer19
XM_011539841.1:c.157dup	XP_011538143.1:p.Glu53GlyfsTer19
XM_011539842.1:c.157dup	XP_011538144.1:p.Glu53GlyfsTer19
XM_011539843.1:c.157dup	XP_011538145.1:p.Glu53GlyfsTer19
XM_011539844.1:c.157dup	XP_011538146.1:p.Glu53GlyfsTer19
XM_006717873.4:c.157dup	XP_006717936.1:p.Glu53GlyfsTer19
XM_011539841.3:c.157dup	XP_011538143.1:p.Glu53GlyfsTer19
XM_011539842.3:c.157dup	XP_011538144.1:p.Glu53GlyfsTer19
XM_017016291.2:c.157dup	XP_016871780.1:p.Glu53GlyfsTer19
XM_017016292.2:c.157dup	XP_016871781.1:p.Glu53GlyfsTer19
XM_017016293.2:c.157dup	XP_016871782.1:p.Glu53GlyfsTer19
XM_017016294.2:c.157dup	XP_016871783.1:p.Glu53GlyfsTer19
XM_024448030.1:c.223dup	XP_024303798.1:p.Glu75GlyfsTer19
XM_024448031.1:c.223dup	XP_024303799.1:p.Glu75GlyfsTer19
XM_024448032.1:c.223dup	XP_024303800.1:p.Glu75GlyfsTer19
NM_001198799.3:c.157dup	NP_001185728.1:p.Glu53GlyfsTer19
NM_001198800.3:c.157dup MANE Select	NP_001185729.1:p.Glu53GlyfsTer19
NM_001369085.1:c.223dup	NP_001356014.1:p.Glu75GlyfsTer19
NM_001369086.1:c.223dup	NP_001356015.1:p.Glu75GlyfsTer19
NM_001369087.1:c.157dup	NP_001356016.1:p.Glu53GlyfsTer19
NM_001369088.1:c.157dup	NP_001356017.1:p.Glu53GlyfsTer19
NM_001369089.1:c.157dup	NP_001356018.1:p.Glu53GlyfsTer19
NM_001369090.1:c.157dup	NP_001356019.1:p.Glu53GlyfsTer19
NM_001369091.1:c.157dup	NP_001356020.1:p.Glu53GlyfsTer19
NM_001369092.1:c.157dup	NP_001356021.1:p.Glu53GlyfsTer19
NM_001369093.1:c.157dup	NP_001356022.1:p.Glu53GlyfsTer19
NM_001369094.1:c.157dup	NP_001356023.1:p.Glu53GlyfsTer19
NM_001369095.1:c.157dup	NP_001356024.1:p.Glu53GlyfsTer19
NM_001369096.1:c.157dup	NP_001356025.1:p.Glu53GlyfsTer19
NM_001369097.1:c.157dup	NP_001356026.1:p.Glu53GlyfsTer19
NM_001369098.1:c.157dup	NP_001356027.1:p.Glu53GlyfsTer19
NM_001369099.1:c.223dup	NP_001356028.1:p.Glu75GlyfsTer19
NM_001369100.1:c.157dup	NP_001356029.1:p.Glu53GlyfsTer19
NM_001369101.1:c.40dup	NP_001356030.1:p.Glu14GlyfsTer19
NM_001369102.1:c.40dup	NP_001356031.1:p.Glu14GlyfsTer19
NM_001369103.1:c.157dup	NP_001356032.1:p.Glu53GlyfsTer19
NM_001369104.1:c.157dup	NP_001356033.1:p.Glu53GlyfsTer19
NM_001369105.1:c.40dup	NP_001356034.1:p.Glu14GlyfsTer19
NM_001369106.1:c.40dup	NP_001356035.1:p.Glu14GlyfsTer19
NM_001369107.1:c.40dup	NP_001356036.1:p.Glu14GlyfsTer19
NM_001369108.1:c.157dup	NP_001356037.1:p.Glu53GlyfsTer19
NM_001369109.1:c.157dup	NP_001356038.1:p.Glu53GlyfsTer19
NM_001369110.1:c.157dup	NP_001356039.1:p.Glu53GlyfsTer19
NM_001369111.1:c.157dup	NP_001356040.1:p.Glu53GlyfsTer19
NM_001369112.1:c.157dup	NP_001356041.1:p.Glu53GlyfsTer19