Canonical Allele Identifier: CA1022880764

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077769094
• gnomAD v3: 21-45990465-A-ACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG
• gnomAD v4: 21-45990465-A-ACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG , CM000683.2:g.45990465_45990466insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG	GRCh38
NC_000021.8:g.47410379_47410380insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG , CM000683.1:g.47410379_47410380insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG	GRCh37
NC_000021.7:g.46234807_46234808insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG	NCBI36
NG_008674.1:g.13717_13718insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG , LRG_475:g.13717_13718insCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCAGGGGAAGGACGGGGAGGG

Transcript Alleles

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