Canonical Allele Identifier: CA8563810

Gene: KRT17

Linked Data

• dbSNP Id: rs760736333
• ExAC: 17:39780524 GC / G
• gnomAD v2: 17-39780524-GC-G
• gnomAD v3: 17-41624272-GC-G
• gnomAD v4: 17-41624272-GC-G
• MyVariant Identifiers: chr17:g.39780525del (hg19) ; chr17:g.41624273del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41624273del , CM000679.2:g.41624273del	GRCh38
NC_000017.10:g.39780525del , CM000679.1:g.39780525del	GRCh37
NC_000017.9:g.37034051del	NCBI36
NG_008625.1:g.5358del
NG_009090.2:g.167440del , LRG_401:g.167440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311208.13:c.237del MANE Select	ENSP00000308452.8:p.Leu80TrpfsTer?
ENST00000311208.12:c.237del	ENSP00000308452.8:p.Leu80TrpfsTer?
ENST00000463128.5:c.-312-67del	ENSP00000468672.1:n.-312-67del
ENST00000491673.1:n.303del
ENST00000493253.5:n.24del
ENST00000540235.5:c.32del	ENSP00000441751.2:p.Cys11SerfsTer5
ENST00000577817.3:c.192del	ENSP00000467418.1:p.Leu65TrpfsTer?
NM_000422.2:c.237del	NP_000413.1:p.Leu80TrpfsTer?
NM_000422.3:c.237del MANE Select	NP_000413.1:p.Leu80TrpfsTer?