Canonical Allele Identifier: CA932069946
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2804941
ClinVar RCV Id: RCV003684358
dbSNP Id: rs2086314131
gnomAD v3: 10-104037679-GA-G
gnomAD v4: 10-104037679-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037682del , CM000672.2:g.104037682del GRCh38
NC_000010.10:g.105797440del , CM000672.1:g.105797440del GRCh37
NC_000010.9:g.105787430del NCBI36
NG_007069.1:g.53201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3029del ENSP00000358748.3:p.Phe1010SerfsTer11
ENST00000648076.2:c.3164del MANE Select ENSP00000497653.1:p.Phe1055SerfsTer11
ENST00000353479.9:c.3164del ENSP00000340937.5:p.Phe1055SerfsTer11
ENST00000369733.7:c.3029del ENSP00000358748.3:p.Phe1010SerfsTer11
NM_000494.3:c.3164del NP_000485.3:p.Phe1055SerfsTer11
NM_000494.4:c.3164del MANE Select NP_000485.3:p.Phe1055SerfsTer11
Search 100 bp 5'
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