Canonical Allele Identifier: CA2654972403

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990472-C-CAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG , CM000683.2:g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG	GRCh38
NC_000021.8:g.47410386_47410387insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG , CM000683.1:g.47410386_47410387insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG	GRCh37
NC_000021.7:g.46234814_46234815insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG	NCBI36
NG_008674.1:g.13724_13725insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG , LRG_475:g.13724_13725insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG MANE Select	ENSP00000355180.3:n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAG...
ENST00000361866.7:c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG	ENSP00000355180.3:n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAG...
ENST00000612273.1:c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG	ENSP00000483630.1:n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAG...
NM_001848.2:c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG , LRG_475t1:c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG	NP_001839.2:n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGG...
NM_001848.3:c.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGAGGGGGG MANE Select	NP_001839.2:n.1002+50_1002+51insAGTGTGAAGGTGACCAGGGGAAGGACGGG...