Canonical Allele Identifier: CA1022879683

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990425-GACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGT-G
• gnomAD v4: 21-45990425-GACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990426_45990507del , CM000683.2:g.45990426_45990507del	GRCh38
NC_000021.8:g.47410340_47410421del , CM000683.1:g.47410340_47410421del	GRCh37
NC_000021.7:g.46234768_46234849del	NCBI36
NG_008674.1:g.13678_13759del , LRG_475:g.13678_13759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+4_1002+85del MANE Select	ENSP00000355180.3:n.1002+4_1002+85del
ENST00000361866.7:c.1002+4_1002+85del	ENSP00000355180.3:n.1002+4_1002+85del
ENST00000612273.1:c.1002+4_1002+85del	ENSP00000483630.1:n.1002+4_1002+85del
NM_001848.2:c.1002+4_1002+85del , LRG_475t1:c.1002+4_1002+85del	NP_001839.2:n.1002+4_1002+85del
NM_001848.3:c.1002+4_1002+85del MANE Select	NP_001839.2:n.1002+4_1002+85del