Canonical Allele Identifier: CA2654972519

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990510-C-CCCGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990520_45990521insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG , CM000683.2:g.45990520_45990521insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG	GRCh38
NC_000021.8:g.47410434_47410435insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG , CM000683.1:g.47410434_47410435insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG	GRCh37
NC_000021.7:g.46234862_46234863insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG	NCBI36
NG_008674.1:g.13772_13773insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG , LRG_475:g.13772_13773insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG MANE Select	ENSP00000355180.3:n.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTG...
ENST00000361866.7:c.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG	ENSP00000355180.3:n.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTG...
ENST00000612273.1:c.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG	ENSP00000483630.1:n.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTG...
NM_001848.2:c.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG , LRG_475t1:c.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG	NP_001839.2:n.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGG...
NM_001848.3:c.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGGGAGGG MANE Select	NP_001839.2:n.1002+98_1002+99insTTGGGGTGGACAGTGTGAAGGTGACCGGG...