Canonical Allele Identifier: CA1022881168

Gene: COL6A1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990474_45990475insAGGTGACCAGGGGAAG , CM000683.2:g.45990474_45990475insAGGTGACCAGGGGAAG	GRCh38
NC_000021.8:g.47410388_47410389insAGGTGACCAGGGGAAG , CM000683.1:g.47410388_47410389insAGGTGACCAGGGGAAG	GRCh37
NC_000021.7:g.46234816_46234817insAGGTGACCAGGGGAAG	NCBI36
NG_008674.1:g.13726_13727insAGGTGACCAGGGGAAG , LRG_475:g.13726_13727insAGGTGACCAGGGGAAG

Transcript Alleles

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