Canonical Allele Identifier: CA2639061185

Gene: PTRH2

Linked Data

• gnomAD v4: 17-59697615-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697618_59697620del , CM000679.2:g.59697618_59697620del	GRCh38
NC_000017.10:g.57774979_57774981del , CM000679.1:g.57774979_57774981del	GRCh37
NC_000017.9:g.55129761_55129763del	NCBI36
NG_042064.1:g.14981_14983del
NG_047043.1:g.82930_82932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.361_363del MANE Select	ENSP00000376758.2:p.Pro121del
ENST00000393038.2:c.361_363del	ENSP00000376758.2:p.Pro121del
ENST00000409433.2:c.364_366del	ENSP00000387180.2:p.Pro122del
ENST00000470557.2:c.361_363del	ENSP00000464327.1:p.Pro121del
ENST00000587935.1:n.45+9753_45+9755del
NM_001015509.2:c.364_366del	NP_001015509.1:p.Pro122del
NM_016077.3:c.361_363del	NP_057161.1:p.Pro121del
NM_016077.4:c.361_363del	NP_057161.1:p.Pro121del
XM_011524887.1:c.361_363del	XP_011523189.1:p.Pro121del
XM_011524887.2:c.361_363del	XP_011523189.1:p.Pro121del
NM_016077.5:c.361_363del MANE Select	NP_057161.1:p.Pro121del
NM_001015509.3:c.364_366del	NP_001015509.1:p.Pro122del