Canonical Allele Identifier: CA1022879833

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077768871
• gnomAD v3: 21-45990459-AGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG-A
• gnomAD v4: 21-45990459-AGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990574del , CM000683.2:g.45990465_45990574del	GRCh38
NC_000021.8:g.47410379_47410488del , CM000683.1:g.47410379_47410488del	GRCh37
NC_000021.7:g.46234807_46234916del	NCBI36
NG_008674.1:g.13717_13826del , LRG_475:g.13717_13826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+43_1002+152del MANE Select	ENSP00000355180.3:n.1002+43_1002+152del
ENST00000361866.7:c.1002+43_1002+152del	ENSP00000355180.3:n.1002+43_1002+152del
ENST00000612273.1:c.1002+43_1002+152del	ENSP00000483630.1:n.1002+43_1002+152del
NM_001848.2:c.1002+43_1002+152del , LRG_475t1:c.1002+43_1002+152del	NP_001839.2:n.1002+43_1002+152del
NM_001848.3:c.1002+43_1002+152del MANE Select	NP_001839.2:n.1002+43_1002+152del