Canonical Allele Identifier: CA2654972416

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990474-A-AAGGTGACCAGGGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990474_45990475insAGGTGACCAGGGGGAG , CM000683.2:g.45990474_45990475insAGGTGACCAGGGGGAG	GRCh38
NC_000021.8:g.47410388_47410389insAGGTGACCAGGGGGAG , CM000683.1:g.47410388_47410389insAGGTGACCAGGGGGAG	GRCh37
NC_000021.7:g.46234816_46234817insAGGTGACCAGGGGGAG	NCBI36
NG_008674.1:g.13726_13727insAGGTGACCAGGGGGAG , LRG_475:g.13726_13727insAGGTGACCAGGGGGAG

Transcript Alleles

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