Canonical Allele Identifier: CA1139771658

Gene: UCHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41268049del , CM000666.2:g.41268049del	GRCh38
NC_000004.11:g.41270066del , CM000666.1:g.41270066del	GRCh37
NC_000004.10:g.40964823del	NCBI36
NG_012931.1:g.16169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284440.9:c.648del MANE Select	ENSP00000284440.4:p.Val217TrpfsTer16
ENST00000284440.8:c.648del	ENSP00000284440.4:p.Val217TrpfsTer16
ENST00000381760.8:n.1199del
ENST00000472501.5:n.1172del
ENST00000503431.5:c.648del	ENSP00000422542.1:p.Val217TrpfsTer16
ENST00000505232.5:c.*173del	ENSP00000423348.1:n.*173del
ENST00000508768.5:c.600del	ENSP00000426895.1:p.Val201TrpfsTer16
ENST00000512419.5:c.*437del	ENSP00000425714.1:n.*437del
ENST00000512788.1:c.677del	ENSP00000423623.1:p.Pro226ArgfsTer?
ENST00000514764.5:n.482del
NM_004181.4:c.648del	NP_004172.2:p.Val217TrpfsTer16
NM_004181.5:c.648del MANE Select	NP_004172.2:p.Val217TrpfsTer16