Canonical Allele Identifier: CA216608

Gene: KRT17

Linked Data

• ClinVar Variation Id: 66183
• ClinVar RCV Id: RCV000056511
• dbSNP Id: rs267607414
• MyVariant Identifiers: chr17:g.39780465_39780488del (hg19) ; chr17:g.41624213_41624236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41624213_41624236del , CM000679.2:g.41624213_41624236del	GRCh38
NC_000017.10:g.39780465_39780488del , CM000679.1:g.39780465_39780488del	GRCh37
NC_000017.9:g.37033991_37034014del	NCBI36
NG_008625.1:g.5395_5418del
NG_009090.2:g.167477_167500del , LRG_401:g.167477_167500del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311208.13:c.274_297del MANE Select	ENSP00000308452.8:p.Asn92_Leu99del
ENST00000311208.12:c.274_297del	ENSP00000308452.8:p.Asn92_Leu99del
ENST00000463128.5:c.-312-30_-312-7del	ENSP00000468672.1:n.-312-30_-312-7del
ENST00000491673.1:n.340_363del
ENST00000493253.5:n.61_84del
ENST00000540235.5:c.69_72-22del
ENST00000577817.3:c.229_252del	ENSP00000467418.1:p.Asn77_Leu84del
NM_000422.2:c.274_297del	NP_000413.1:p.Asn92_Leu99del
NM_000422.3:c.274_297del MANE Select	NP_000413.1:p.Asn92_Leu99del