Canonical Allele Identifier: CA1022881160

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990474-A-AAGGTGACCGGGGAGG
• gnomAD v4: 21-45990474-A-AAGGTGACCGGGGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990474_45990475insAGGTGACCGGGGAGG , CM000683.2:g.45990474_45990475insAGGTGACCGGGGAGG	GRCh38
NC_000021.8:g.47410388_47410389insAGGTGACCGGGGAGG , CM000683.1:g.47410388_47410389insAGGTGACCGGGGAGG	GRCh37
NC_000021.7:g.46234816_46234817insAGGTGACCGGGGAGG	NCBI36
NG_008674.1:g.13726_13727insAGGTGACCGGGGAGG , LRG_475:g.13726_13727insAGGTGACCGGGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+52_1002+53insAGGTGACCGGGGAGG MANE Select	ENSP00000355180.3:n.1002+52_1002+53insAGGTGACCGGGGAGG
ENST00000361866.7:c.1002+52_1002+53insAGGTGACCGGGGAGG	ENSP00000355180.3:n.1002+52_1002+53insAGGTGACCGGGGAGG
ENST00000612273.1:c.1002+52_1002+53insAGGTGACCGGGGAGG	ENSP00000483630.1:n.1002+52_1002+53insAGGTGACCGGGGAGG
NM_001848.2:c.1002+52_1002+53insAGGTGACCGGGGAGG , LRG_475t1:c.1002+52_1002+53insAGGTGACCGGGGAGG	NP_001839.2:n.1002+52_1002+53insAGGTGACCGGGGAGG
NM_001848.3:c.1002+52_1002+53insAGGTGACCGGGGAGG MANE Select	NP_001839.2:n.1002+52_1002+53insAGGTGACCGGGGAGG