Canonical Allele Identifier: CA645568175
Gene: COL17A1 HGNC NCBI

Linked Data

COSMIC: COSM6318439
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104064599G>T , CM000672.2:g.104064599G>T GRCh38
NC_000010.10:g.105824357G>T , CM000672.1:g.105824357G>T GRCh37
NC_000010.9:g.105814347G>T NCBI36
NG_007069.1:g.26282C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.608-3C>A ENSP00000358748.3:n.608-3C>A
ENST00000648076.2:c.608-3C>A MANE Select ENSP00000497653.1:n.608-3C>A
ENST00000649118.1:n.723-3C>A
ENST00000650263.1:c.560-3C>A ENSP00000497850.1:n.560-3C>A
ENST00000353479.9:c.608-3C>A ENSP00000340937.5:n.608-3C>A
ENST00000369733.7:c.608-3C>A ENSP00000358748.3:n.608-3C>A
ENST00000393211.3:c.608-3C>A ENSP00000376905.3:n.608-3C>A
NM_000494.3:c.608-3C>A NP_000485.3:n.608-3C>A
NM_000494.4:c.608-3C>A MANE Select NP_000485.3:n.608-3C>A
Search 100 bp 5'
Search 100 bp 3'