Canonical Allele Identifier: CA2654957134
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987765_45987766insA , CM000683.2:g.45987765_45987766insA GRCh38
NC_000021.8:g.47407679_47407680insA , CM000683.1:g.47407679_47407680insA GRCh37
NC_000021.7:g.46232107_46232108insA NCBI36
NG_008674.1:g.11017_11018insA , LRG_475:g.11017_11018insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.804+111_804+112insA MANE Select ENSP00000355180.3:n.804+111_804+112insA
ENST00000361866.7:c.804+111_804+112insA ENSP00000355180.3:n.804+111_804+112insA
ENST00000612273.1:c.804+111_804+112insA ENSP00000483630.1:n.804+111_804+112insA
NM_001848.2:c.804+111_804+112insA , LRG_475t1:c.804+111_804+112insA NP_001839.2:n.804+111_804+112insA
NM_001848.3:c.804+111_804+112insA MANE Select NP_001839.2:n.804+111_804+112insA