Canonical Allele Identifier: CA1846870490

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429752_37429753delinsCT , CM000671.2:g.37429752_37429753delinsCT	GRCh38
NC_000009.11:g.37429749_37429750delinsCT , CM000671.1:g.37429749_37429750delinsCT	GRCh37
NC_000009.10:g.37419749_37419750delinsCT	NCBI36
NG_008135.1:g.12043_12044delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.514_515delinsCT MANE Select	ENSP00000313432.6:p.Leu172=
ENST00000318158.10:c.514_515delinsCT	ENSP00000313432.6:p.Leu172=
ENST00000377824.8:n.551_552delinsCT
ENST00000460882.5:n.541_542delinsCT
ENST00000480596.5:n.1215_1216delinsCT
ENST00000491488.5:n.219_220delinsCT
ENST00000494290.1:c.85_86delinsCT	ENSP00000432021.1:p.Leu29=
ENST00000497693.1:n.2047_2048delinsCT
ENST00000607784.1:c.514_515delinsCT	ENSP00000475569.1:p.Leu172=
NM_012203.1:c.514_515delinsCT	NP_036335.1:p.Leu172=
XM_005251631.1:c.193_194delinsCT	XP_005251688.1:p.Leu65=
XM_011518073.1:c.112_113delinsCT	XP_011516375.1:p.Leu38=
XR_929374.1:n.959_960delinsCT
XM_017015320.2:c.514_515delinsCT	XP_016870809.1:p.Leu172=
XM_017015321.2:c.514_515delinsCT	XP_016870810.1:p.Leu172=
XM_017015323.2:c.112_113delinsCT	XP_016870812.1:p.Leu38=
XM_024447716.1:c.787_788delinsCT	XP_024303484.1:p.Leu263=
XM_024447717.1:c.787_788delinsCT	XP_024303485.1:p.Leu263=
XR_002956828.1:n.802_803delinsCT
XR_002956829.1:n.802_803delinsCT
XR_002956830.1:n.573_574delinsCT
XR_002956831.1:n.248_249delinsCT
XR_002956832.1:n.933_934delinsCT
NM_012203.2:c.514_515delinsCT MANE Select	NP_036335.1:p.Leu172=