Canonical Allele Identifier: CA1022881898

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077770953
• gnomAD v3: 21-45990584-A-AGAT
• gnomAD v4: 21-45990584-A-AGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990585_45990586insATG , CM000683.2:g.45990585_45990586insATG	GRCh38
NC_000021.8:g.47410499_47410500insATG , CM000683.1:g.47410499_47410500insATG	GRCh37
NC_000021.7:g.46234927_46234928insATG	NCBI36
NG_008674.1:g.13837_13838insATG , LRG_475:g.13837_13838insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+163_1002+164insATG MANE Select	ENSP00000355180.3:n.1002+163_1002+164insATG
ENST00000361866.7:c.1002+163_1002+164insATG	ENSP00000355180.3:n.1002+163_1002+164insATG
ENST00000612273.1:c.1002+163_1002+164insATG	ENSP00000483630.1:n.1002+163_1002+164insATG
NM_001848.2:c.1002+163_1002+164insATG , LRG_475t1:c.1002+163_1002+164insATG	NP_001839.2:n.1002+163_1002+164insATG
NM_001848.3:c.1002+163_1002+164insATG MANE Select	NP_001839.2:n.1002+163_1002+164insATG