Canonical Allele Identifier: CA1022881152

Gene: COL6A1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990474_45990475insAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG , CM000683.2:g.45990474_45990475insAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG	GRCh38
NC_000021.8:g.47410388_47410389insAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG , CM000683.1:g.47410388_47410389insAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG	GRCh37
NC_000021.7:g.46234816_46234817insAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG	NCBI36
NG_008674.1:g.13726_13727insAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG , LRG_475:g.13726_13727insAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG

Transcript Alleles

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