Canonical Allele Identifier: CA659193854
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3005241
ClinVar RCV Id: RCV003868368
dbSNP Id: rs1279680398
gnomAD v3: 10-104034099-CCT-C
gnomAD v4: 10-104034099-CCT-C
MyVariant Identifiers: chr10:g.105793858_105793859del (hg19) chr10:g.104034100_104034101del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034100_104034101del , CM000672.2:g.104034100_104034101del GRCh38
NC_000010.10:g.105793858_105793859del , CM000672.1:g.105793858_105793859del GRCh37
NC_000010.9:g.105783848_105783849del NCBI36
NG_007069.1:g.56780_56781del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3754_3755del ENSP00000358748.3:p.Arg1252GlyfsTer6
ENST00000647647.1:c.30_31del
ENST00000648076.2:c.4000_4001del MANE Select ENSP00000497653.1:p.Arg1334GlyfsTer6
ENST00000353479.9:c.4000_4001del ENSP00000340937.5:p.Arg1334GlyfsTer6
ENST00000369733.7:c.3754_3755del ENSP00000358748.3:p.Arg1252GlyfsTer6
NM_000494.3:c.4000_4001del NP_000485.3:p.Arg1334GlyfsTer6
NM_000494.4:c.4000_4001del MANE Select NP_000485.3:p.Arg1334GlyfsTer6
Search 100 bp 5'
Search 100 bp 3'