Canonical Allele Identifier: CA2580080520

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2088287
• ClinVar RCV Id: RCV003011565

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429754_37429770dup , CM000671.2:g.37429754_37429770dup	GRCh38
NC_000009.11:g.37429751_37429767dup , CM000671.1:g.37429751_37429767dup	GRCh37
NC_000009.10:g.37419751_37419767dup	NCBI36
NG_008135.1:g.12045_12061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.516_532dup MANE Select	ENSP00000313432.6:p.Gln178ArgfsTer?
ENST00000318158.10:c.516_532dup	ENSP00000313432.6:p.Gln178ArgfsTer?
ENST00000377824.8:n.553_569dup
ENST00000460882.5:n.543_559dup
ENST00000480596.5:n.1217_1233dup
ENST00000491488.5:n.221_237dup
ENST00000494290.1:c.87_103dup	ENSP00000432021.1:p.Gln35ArgfsTer?
ENST00000497693.1:n.2049_2065dup
ENST00000607784.1:c.516_532dup	ENSP00000475569.1:p.Gln178ArgfsTer?
NM_012203.1:c.516_532dup	NP_036335.1:p.Gln178ArgfsTer?
XM_005251631.1:c.195_211dup	XP_005251688.1:p.Gln71ArgfsTer?
XM_011518073.1:c.114_130dup	XP_011516375.1:p.Gln44ArgfsTer?
XR_929374.1:n.961_977dup
XM_017015320.2:c.516_532dup	XP_016870809.1:p.Gln178ArgfsTer?
XM_017015321.2:c.516_532dup	XP_016870810.1:p.Gln178ArgfsTer?
XM_017015323.2:c.114_130dup	XP_016870812.1:p.Gln44ArgfsTer?
XM_024447716.1:c.789_805dup	XP_024303484.1:p.Gln269ArgfsTer?
XM_024447717.1:c.789_805dup	XP_024303485.1:p.Gln269ArgfsTer?
XR_002956828.1:n.804_820dup
XR_002956829.1:n.804_820dup
XR_002956830.1:n.575_591dup
XR_002956831.1:n.250_266dup
XR_002956832.1:n.935_951dup
NM_012203.2:c.516_532dup MANE Select	NP_036335.1:p.Gln178ArgfsTer?