Canonical Allele Identifier: CA2654972419
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990476_45990477insG , CM000683.2:g.45990476_45990477insG GRCh38
NC_000021.8:g.47410390_47410391insG , CM000683.1:g.47410390_47410391insG GRCh37
NC_000021.7:g.46234818_46234819insG NCBI36
NG_008674.1:g.13728_13729insG , LRG_475:g.13728_13729insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+54_1002+55insG MANE Select ENSP00000355180.3:n.1002+54_1002+55insG
ENST00000361866.7:c.1002+54_1002+55insG ENSP00000355180.3:n.1002+54_1002+55insG
ENST00000612273.1:c.1002+54_1002+55insG ENSP00000483630.1:n.1002+54_1002+55insG
NM_001848.2:c.1002+54_1002+55insG , LRG_475t1:c.1002+54_1002+55insG NP_001839.2:n.1002+54_1002+55insG
NM_001848.3:c.1002+54_1002+55insG MANE Select NP_001839.2:n.1002+54_1002+55insG