Canonical Allele Identifier: CA2654959373
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-46001417-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001420del , CM000683.2:g.46001420del GRCh38
NC_000021.8:g.47421334del , CM000683.1:g.47421334del GRCh37
NC_000021.7:g.46245762del NCBI36
NG_008674.1:g.24672del , LRG_475:g.24672del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.355+34del
ENST00000612273.2:c.82+34del
ENST00000682634.1:c.82+34del
ENST00000361866.8:c.1956+34del MANE Select ENSP00000355180.3:n.1956+34del
ENST00000361866.7:c.1956+34del ENSP00000355180.3:n.1956+34del
ENST00000463060.5:n.355+34del
ENST00000498614.5:n.190+34del
ENST00000612273.1:c.1950+34del ENSP00000483630.1:n.1950+34del
NM_001848.2:c.1956+34del , LRG_475t1:c.1956+34del NP_001839.2:n.1956+34del
NM_001848.3:c.1956+34del MANE Select NP_001839.2:n.1956+34del
Search 100 bp 5'
Search 100 bp 3'