Canonical Allele Identifier: CA626215610

Gene: KRT17

Linked Data

• dbSNP Id: rs1481832434
• gnomAD v2: 17-39780547-CT-C
• MyVariant Identifiers: chr17:g.39780548del (hg19) ; chr17:g.41624296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41624296del , CM000679.2:g.41624296del	GRCh38
NC_000017.10:g.39780548del , CM000679.1:g.39780548del	GRCh37
NC_000017.9:g.37034074del	NCBI36
NG_008625.1:g.5335del
NG_009090.2:g.167417del , LRG_401:g.167417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311208.13:c.214del MANE Select	ENSP00000308452.8:p.Ser72AlafsTer?
ENST00000311208.12:c.214del	ENSP00000308452.8:p.Ser72AlafsTer?
ENST00000463128.5:c.-312-90del	ENSP00000468672.1:n.-312-90del
ENST00000491673.1:n.280del
ENST00000493253.5:n.1del
ENST00000540235.5:c.9del	ENSP00000441751.2:p.Ala4LeufsTer5
ENST00000577817.3:c.169del	ENSP00000467418.1:p.Ser57AlafsTer?
NM_000422.2:c.214del	NP_000413.1:p.Ser72AlafsTer?
NM_000422.3:c.214del MANE Select	NP_000413.1:p.Ser72AlafsTer?