Canonical Allele Identifier: CA10070002

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077769094
• ExAC: 21:47410379 A / ACGGGGAGGG
• gnomAD v3: 21-45990465-A-ACGGGGAGGG
• gnomAD v4: 21-45990465-A-ACGGGGAGGG
• MyVariant Identifiers: chr21:g.47410380_47410434delinsCGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990466insCGGGGAGGG , CM000683.2:g.45990465_45990466insCGGGGAGGG	GRCh38
NC_000021.8:g.47410379_47410380insCGGGGAGGG , CM000683.1:g.47410379_47410380insCGGGGAGGG	GRCh37
NC_000021.7:g.46234807_46234808insCGGGGAGGG	NCBI36
NG_008674.1:g.13717_13718insCGGGGAGGG , LRG_475:g.13717_13718insCGGGGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+43_1002+44insCGGGGAGGG MANE Select	ENSP00000355180.3:n.1002+43_1002+44insCGGGGAGGG
ENST00000361866.7:c.1002+43_1002+44insCGGGGAGGG	ENSP00000355180.3:n.1002+43_1002+44insCGGGGAGGG
ENST00000612273.1:c.1002+43_1002+44insCGGGGAGGG	ENSP00000483630.1:n.1002+43_1002+44insCGGGGAGGG
NM_001848.2:c.1002+43_1002+44insCGGGGAGGG , LRG_475t1:c.1002+43_1002+44insCGGGGAGGG	NP_001839.2:n.1002+43_1002+44insCGGGGAGGG
NM_001848.3:c.1002+43_1002+44insCGGGGAGGG MANE Select	NP_001839.2:n.1002+43_1002+44insCGGGGAGGG