Canonical Allele Identifier: CA2654972477
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990494_45990495insTG , CM000683.2:g.45990494_45990495insTG GRCh38
NC_000021.8:g.47410408_47410409insTG , CM000683.1:g.47410408_47410409insTG GRCh37
NC_000021.7:g.46234836_46234837insTG NCBI36
NG_008674.1:g.13746_13747insTG , LRG_475:g.13746_13747insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+72_1002+73insTG MANE Select ENSP00000355180.3:n.1002+72_1002+73insTG
ENST00000361866.7:c.1002+72_1002+73insTG ENSP00000355180.3:n.1002+72_1002+73insTG
ENST00000612273.1:c.1002+72_1002+73insTG ENSP00000483630.1:n.1002+72_1002+73insTG
NM_001848.2:c.1002+72_1002+73insTG , LRG_475t1:c.1002+72_1002+73insTG NP_001839.2:n.1002+72_1002+73insTG
NM_001848.3:c.1002+72_1002+73insTG MANE Select NP_001839.2:n.1002+72_1002+73insTG