Canonical Allele Identifier: CA2580096005

Gene: TSHZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.75286260del , CM000680.2:g.75286260del	GRCh38
NC_000018.9:g.72998215del , CM000680.1:g.72998215del	GRCh37
NC_000018.8:g.71127203del	NCBI36
NG_032047.1:g.80506del

Transcript Alleles

HGVS	Amino-acid Change
NM_001308210.2:c.853del MANE Select	NP_001295139.1:p.Arg285GlyfsTer10
ENST00000580243.3:c.853del MANE Select	ENSP00000464391.1:p.Arg285GlyfsTer10
NM_001308210.1:c.853del	NP_001295139.1:p.Arg285GlyfsTer10
NM_005786.5:c.718del	NP_005777.3:p.Arg240GlyfsTer10
NM_005786.6:c.718del	NP_005777.3:p.Arg240GlyfsTer10
ENST00000322038.5:c.718del	ENSP00000323584.5:p.Arg240GlyfsTer10
ENST00000560918.2:c.718del	ENSP00000453834.2:p.Arg240GlyfsTer10
ENST00000580243.1:c.853del	ENSP00000464391.1:p.Arg285GlyfsTer10
ENST00000584217.1:n.3397del
XM_005266641.2:c.718del	XP_005266698.1:p.Arg240GlyfsTer10
XM_005266641.3:c.718del	XP_005266698.1:p.Arg240GlyfsTer10