Canonical Allele Identifier: CA2654958954

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990443-T-TGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990464_45990465insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG , CM000683.2:g.45990464_45990465insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG	GRCh38
NC_000021.8:g.47410378_47410379insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG , CM000683.1:g.47410378_47410379insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG	GRCh37
NC_000021.7:g.46234806_46234807insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG	NCBI36
NG_008674.1:g.13716_13717insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG , LRG_475:g.13716_13717insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG MANE Select	ENSP00000355180.3:n.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGAC...
ENST00000361866.7:c.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG	ENSP00000355180.3:n.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGAC...
ENST00000612273.1:c.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG	ENSP00000483630.1:n.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGAC...
NM_001848.2:c.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG , LRG_475t1:c.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG	NP_001839.2:n.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGACGGAGTG...
NM_001848.3:c.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGACGGAGTGGACAGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGAGGAGG MANE Select	NP_001839.2:n.1002+42_1002+43insGACGGGGAGGGATGGGGAGGGACGGAGTG...