Canonical Allele Identifier: CA2610801512
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104050577-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104050578del , CM000672.2:g.104050578del GRCh38
NC_000010.10:g.105810336del , CM000672.1:g.105810336del GRCh37
NC_000010.9:g.105800326del NCBI36
NG_007069.1:g.40303del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2128+43del ENSP00000358748.3:n.2128+43del
ENST00000648076.2:c.2128+43del MANE Select ENSP00000497653.1:n.2128+43del
ENST00000353479.9:c.2128+43del ENSP00000340937.5:n.2128+43del
ENST00000369733.7:c.2128+43del ENSP00000358748.3:n.2128+43del
NM_000494.3:c.2128+43del NP_000485.3:n.2128+43del
NM_000494.4:c.2128+43del MANE Select NP_000485.3:n.2128+43del
Search 100 bp 5'
Search 100 bp 3'