Canonical Allele Identifier: CA5677743
Gene: COL17A1 HGNC NCBI
gnomAD v2:
10:105793858 CT / C
gnomAD v4:
chr10-104034100-CT-C
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000478207
ClinVar Variation:
422593
dbSNP:
775251483
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034101del , CM000672.2:g.104034101del GRCh38
NC_000010.10:g.105793859del , CM000672.1:g.105793859del GRCh37
NC_000010.9:g.105783849del NCBI36
NG_007069.1:g.56780del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3754del ENSP00000358748.3:p.Arg1252GlyfsTer?
ENST00000647647.1:c.30del
ENST00000648076.2:c.4000del MANE Select ENSP00000497653.1:p.Arg1334GlyfsTer?
ENST00000353479.9:c.4000del ENSP00000340937.5:p.Arg1334GlyfsTer?
ENST00000369733.7:c.3754del ENSP00000358748.3:p.Arg1252GlyfsTer?
NM_000494.3:c.4000del NP_000485.3:p.Arg1334GlyfsTer?
NM_000494.4:c.4000del MANE Select NP_000485.3:p.Arg1334GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'