Canonical Allele Identifier: CA2573145528
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17653
ClinVar RCV Id: RCV002279927
dbSNP Id: rs2134563935
gnomAD v4: 10-104034200-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034202_104034203del , CM000672.2:g.104034202_104034203del GRCh38
NC_000010.10:g.105793960_105793961del , CM000672.1:g.105793960_105793961del GRCh37
NC_000010.9:g.105783950_105783951del NCBI36
NG_007069.1:g.56679_56680del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3653_3654del ENSP00000358748.3:p.Ser1218CysfsTer29
ENST00000648076.2:c.3899_3900del MANE Select ENSP00000497653.1:p.Ser1300CysfsTer29
ENST00000353479.9:c.3899_3900del ENSP00000340937.5:p.Ser1300CysfsTer29
ENST00000369733.7:c.3653_3654del ENSP00000358748.3:p.Ser1218CysfsTer29
NM_000494.3:c.3899_3900del NP_000485.3:p.Ser1300CysfsTer29
NM_000494.4:c.3899_3900del MANE Select NP_000485.3:p.Ser1300CysfsTer29
Search 100 bp 5'
Search 100 bp 3'