Canonical Allele Identifier: CA2654972446
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990485_45990486insC , CM000683.2:g.45990485_45990486insC GRCh38
NC_000021.8:g.47410399_47410400insC , CM000683.1:g.47410399_47410400insC GRCh37
NC_000021.7:g.46234827_46234828insC NCBI36
NG_008674.1:g.13737_13738insC , LRG_475:g.13737_13738insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+63_1002+64insC MANE Select ENSP00000355180.3:n.1002+63_1002+64insC
ENST00000361866.7:c.1002+63_1002+64insC ENSP00000355180.3:n.1002+63_1002+64insC
ENST00000612273.1:c.1002+63_1002+64insC ENSP00000483630.1:n.1002+63_1002+64insC
NM_001848.2:c.1002+63_1002+64insC , LRG_475t1:c.1002+63_1002+64insC NP_001839.2:n.1002+63_1002+64insC
NM_001848.3:c.1002+63_1002+64insC MANE Select NP_001839.2:n.1002+63_1002+64insC