Canonical Allele Identifier: CA1022881056

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990466-A-AGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG
• gnomAD v4: 21-45990466-A-AGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990466_45990467insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG , CM000683.2:g.45990466_45990467insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG	GRCh38
NC_000021.8:g.47410380_47410381insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG , CM000683.1:g.47410380_47410381insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG	GRCh37
NC_000021.7:g.46234808_46234809insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG	NCBI36
NG_008674.1:g.13718_13719insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG , LRG_475:g.13718_13719insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG MANE Select	ENSP00000355180.3:n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTG...
ENST00000361866.7:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG	ENSP00000355180.3:n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTG...
ENST00000612273.1:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG	ENSP00000483630.1:n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTG...
NM_001848.2:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG , LRG_475t1:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG	NP_001839.2:n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGT...
NM_001848.3:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGG MANE Select	NP_001839.2:n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGT...