Canonical Allele Identifier: CA2654972468
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990490_45990491insCT , CM000683.2:g.45990490_45990491insCT GRCh38
NC_000021.8:g.47410404_47410405insCT , CM000683.1:g.47410404_47410405insCT GRCh37
NC_000021.7:g.46234832_46234833insCT NCBI36
NG_008674.1:g.13742_13743insCT , LRG_475:g.13742_13743insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+68_1002+69insCT MANE Select ENSP00000355180.3:n.1002+68_1002+69insCT
ENST00000361866.7:c.1002+68_1002+69insCT ENSP00000355180.3:n.1002+68_1002+69insCT
ENST00000612273.1:c.1002+68_1002+69insCT ENSP00000483630.1:n.1002+68_1002+69insCT
NM_001848.2:c.1002+68_1002+69insCT , LRG_475t1:c.1002+68_1002+69insCT NP_001839.2:n.1002+68_1002+69insCT
NM_001848.3:c.1002+68_1002+69insCT MANE Select NP_001839.2:n.1002+68_1002+69insCT