Canonical Allele Identifier: CA216616

Gene: KRT17

Linked Data

• ClinVar Variation Id: 66185
• ClinVar RCV Id: RCV000056519
• dbSNP Id: rs267607416
• MyVariant Identifiers: chr17:g.39780464_39780475del (hg19) ; chr17:g.41624212_41624223del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41624217_41624228del , CM000679.2:g.41624217_41624228del	GRCh38
NC_000017.10:g.39780469_39780480del , CM000679.1:g.39780469_39780480del	GRCh37
NC_000017.9:g.37033995_37034006del	NCBI36
NG_008625.1:g.5408_5419del
NG_009090.2:g.167490_167501del , LRG_401:g.167490_167501del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311208.13:c.287_298del MANE Select	ENSP00000308452.8:p.Ala96_Leu99del
ENST00000311208.12:c.287_298del	ENSP00000308452.8:p.Ala96_Leu99del
ENST00000463128.5:c.-312-17_-312-6del	ENSP00000468672.1:n.-312-17_-312-6del
ENST00000491673.1:n.353_364del
ENST00000493253.5:n.74_85del
ENST00000540235.5:c.71+11_72-21del	ENSP00000441751.2:n.71+11_72-21del
ENST00000577817.3:c.242_253del	ENSP00000467418.1:p.Ala81_Leu84del
NM_000422.2:c.287_298del	NP_000413.1:p.Ala96_Leu99del
NM_000422.3:c.287_298del MANE Select	NP_000413.1:p.Ala96_Leu99del