Canonical Allele Identifier: CA8563332
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 2184912
ClinVar RCV Id: RCV002603553
dbSNP Id: rs764850876
ExAC: 17:39768783 GAGAC / G
gnomAD v2: 17-39768783-GAGAC-G
gnomAD v3: 17-41612531-GAGAC-G
gnomAD v4: 17-41612531-GAGAC-G
MyVariant Identifiers: chr17:g.39768784_39768787del (hg19) chr17:g.41612532_41612535del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612538_41612541del , CM000679.2:g.41612538_41612541del GRCh38
NC_000017.10:g.39768790_39768793del , CM000679.1:g.39768790_39768793del GRCh37
NC_000017.9:g.37022316_37022319del NCBI36
NG_008301.1:g.5293_5296del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.154_157del MANE Select ENSP00000301653.3:p.Val52ProfsTer?
ENST00000301653.8:c.154_157del ENSP00000301653.3:p.Val52ProfsTer?
ENST00000588319.1:n.231_234del
ENST00000593067.1:c.-312-249_-312-246del ENSP00000467124.1:n.-312-249_-312-246del
NM_005557.3:c.154_157del NP_005548.2:p.Val52ProfsTer?
NM_005557.4:c.154_157del MANE Select NP_005548.2:p.Val52ProfsTer?
Search 100 bp 5'
Search 100 bp 3'