Canonical Allele Identifier: CA5677864
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2835155
ClinVar RCV Id: RCV003686996
dbSNP Id: rs755244997
ExAC: 10:105794472 GC / G
gnomAD v2: 10-105794472-GC-G
MyVariant Identifiers: chr10:g.105794473del (hg19) chr10:g.104034715del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034717del , CM000672.2:g.104034717del GRCh38
NC_000010.10:g.105794475del , CM000672.1:g.105794475del GRCh37
NC_000010.9:g.105784465del NCBI36
NG_007069.1:g.56166del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3426del ENSP00000358748.3:p.Pro1143LeufsTer26
ENST00000648076.2:c.3672del MANE Select ENSP00000497653.1:p.Pro1225LeufsTer26
ENST00000353479.9:c.3672del ENSP00000340937.5:p.Pro1225LeufsTer26
ENST00000369733.7:c.3426del ENSP00000358748.3:p.Pro1143LeufsTer26
NM_000494.3:c.3672del NP_000485.3:p.Pro1225LeufsTer26
NM_000494.4:c.3672del MANE Select NP_000485.3:p.Pro1225LeufsTer26
Search 100 bp 5'
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