Canonical Allele Identifier: CA2654957205
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987794_45987795del , CM000683.2:g.45987794_45987795del GRCh38
NC_000021.8:g.47407708_47407709del , CM000683.1:g.47407708_47407709del GRCh37
NC_000021.7:g.46232136_46232137del NCBI36
NG_008674.1:g.11046_11047del , LRG_475:g.11046_11047del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.804+140_804+141del MANE Select ENSP00000355180.3:n.804+140_804+141del
ENST00000361866.7:c.804+140_804+141del ENSP00000355180.3:n.804+140_804+141del
ENST00000612273.1:c.804+140_804+141del ENSP00000483630.1:n.804+140_804+141del
NM_001848.2:c.804+140_804+141del , LRG_475t1:c.804+140_804+141del NP_001839.2:n.804+140_804+141del
NM_001848.3:c.804+140_804+141del MANE Select NP_001839.2:n.804+140_804+141del