Canonical Allele Identifier: CA1022881947

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077771200
• gnomAD v3: 21-45990605-C-CGG
• gnomAD v4: 21-45990605-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990605_45990606insGG , CM000683.2:g.45990605_45990606insGG	GRCh38
NC_000021.8:g.47410519_47410520insGG , CM000683.1:g.47410519_47410520insGG	GRCh37
NC_000021.7:g.46234947_46234948insGG	NCBI36
NG_008674.1:g.13857_13858insGG , LRG_475:g.13857_13858insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-168_1003-167insGG MANE Select	ENSP00000355180.3:n.1003-168_1003-167insGG
ENST00000361866.7:c.1003-168_1003-167insGG	ENSP00000355180.3:n.1003-168_1003-167insGG
ENST00000612273.1:c.1003-168_1003-167insGG	ENSP00000483630.1:n.1003-168_1003-167insGG
NM_001848.2:c.1003-168_1003-167insGG , LRG_475t1:c.1003-168_1003-167insGG	NP_001839.2:n.1003-168_1003-167insGG
NM_001848.3:c.1003-168_1003-167insGG MANE Select	NP_001839.2:n.1003-168_1003-167insGG