Canonical Allele Identifier: CA10069542

Gene: COL6A1

Linked Data

• dbSNP Id: rs774089424
• ExAC: 21:47404303 CGT / C
• gnomAD v2: 21-47404303-CGT-C
• gnomAD v4: 21-45984389-CGT-C
• MyVariant Identifiers: chr21:g.47404304_47404305del (hg19) ; chr21:g.45984390_45984391del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984391_45984392del , CM000683.2:g.45984391_45984392del	GRCh38
NC_000021.8:g.47404305_47404306del , CM000683.1:g.47404305_47404306del	GRCh37
NC_000021.7:g.46228733_46228734del	NCBI36
NG_008674.1:g.7643_7644del , LRG_475:g.7643_7644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.350_351del MANE Select	ENSP00000355180.3:p.Val117GlyfsTer?
ENST00000361866.7:c.350_351del	ENSP00000355180.3:p.Val117GlyfsTer?
ENST00000612273.1:c.350_351del	ENSP00000483630.1:p.Val117GlyfsTer?
NM_001848.2:c.350_351del , LRG_475t1:c.350_351del	NP_001839.2:p.Val117GlyfsTer?
NM_001848.3:c.350_351del MANE Select	NP_001839.2:p.Val117GlyfsTer?