Canonical Allele Identifier: CA2580098905
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2125088
ClinVar RCV Id: RCV003057484
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984483_45984484delinsGA , CM000683.2:g.45984483_45984484delinsGA GRCh38
NC_000021.8:g.47404397_47404398delinsGA , CM000683.1:g.47404397_47404398delinsGA GRCh37
NC_000021.7:g.46228825_46228826delinsGA NCBI36
NG_008674.1:g.7735_7736delinsGA , LRG_475:g.7735_7736delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.428+14_428+15delinsGA MANE Select ENSP00000355180.3:n.428+14_428+15delinsGA
ENST00000361866.7:c.428+14_428+15delinsGA ENSP00000355180.3:n.428+14_428+15delinsGA
ENST00000612273.1:c.428+14_428+15delinsGA ENSP00000483630.1:n.428+14_428+15delinsGA
NM_001848.2:c.428+14_428+15delinsGA , LRG_475t1:c.428+14_428+15delinsGA NP_001839.2:n.428+14_428+15delinsGA
NM_001848.3:c.428+14_428+15delinsGA MANE Select NP_001839.2:n.428+14_428+15delinsGA
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