Canonical Allele Identifier: CA10070328

Gene: COL6A1

Linked Data

• dbSNP Id: rs773703714
• ExAC: 21:47417436 G / GA
• gnomAD v2: 21-47417436-G-GA
• gnomAD v4: 21-45997522-G-GA
• MyVariant Identifiers: chr21:g.47417436_47417437insA (hg19) ; chr21:g.45997522_45997523insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45997522_45997523insA , CM000683.2:g.45997522_45997523insA	GRCh38
NC_000021.8:g.47417436_47417437insA , CM000683.1:g.47417436_47417437insA	GRCh37
NC_000021.7:g.46241864_46241865insA	NCBI36
NG_008674.1:g.20774_20775insA , LRG_475:g.20774_20775insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683550.1:n.236+39_236+40insA
ENST00000361866.8:c.1461+39_1461+40insA MANE Select	ENSP00000355180.3:n.1461+39_1461+40insA
ENST00000361866.7:c.1461+39_1461+40insA	ENSP00000355180.3:n.1461+39_1461+40insA
ENST00000612273.1:c.1461+39_1461+40insA	ENSP00000483630.1:n.1461+39_1461+40insA
NM_001848.2:c.1461+39_1461+40insA , LRG_475t1:c.1461+39_1461+40insA	NP_001839.2:n.1461+39_1461+40insA
NM_001848.3:c.1461+39_1461+40insA MANE Select	NP_001839.2:n.1461+39_1461+40insA