Canonical Allele Identifier: CA658822481

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 557542
• ClinVar RCV Id: RCV000673697
• dbSNP Id: rs1554749639
• gnomAD v4: 9-37436660-G-GTGAT
• MyVariant Identifiers: chr9:g.37436662_37436665dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436662_37436665dup , CM000671.2:g.37436662_37436665dup	GRCh38
NC_000009.11:g.37436659_37436662dup , CM000671.1:g.37436659_37436662dup	GRCh37
NC_000009.10:g.37426659_37426662dup	NCBI36
NG_008135.1:g.18953_18956dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.867_870dup MANE Select	ENSP00000313432.6:p.Leu291AspfsTer22
ENST00000318158.10:c.867_870dup	ENSP00000313432.6:p.Leu291AspfsTer22
ENST00000460882.5:n.894_897dup
ENST00000480596.5:n.1568_1571dup
ENST00000491488.5:n.572_575dup
ENST00000494290.1:c.*52-219_*52-216dup	ENSP00000432021.1:n.*52-219_*52-216dup
ENST00000497693.1:n.4435_4438dup
NM_012203.1:c.867_870dup	NP_036335.1:p.Leu291AspfsTer22
XM_005251631.1:c.546_549dup	XP_005251688.1:p.Leu184AspfsTer22
XM_011518073.1:c.465_468dup	XP_011516375.1:p.Leu157AspfsTer22
XM_017015320.2:c.946-749_946-746dup	XP_016870809.1:n.946-749_946-746dup
XM_017015321.2:c.866-749_866-746dup	XP_016870810.1:n.866-749_866-746dup
XM_017015323.2:c.544-749_544-746dup	XP_016870812.1:n.544-749_544-746dup
XM_024447716.1:c.1219-749_1219-746dup	XP_024303484.1:n.1219-749_1219-746dup
XM_024447717.1:c.1139-749_1139-746dup	XP_024303485.1:n.1139-749_1139-746dup
XR_002956828.1:n.1234-749_1234-746dup
XR_002956829.1:n.1154-749_1154-746dup
XR_002956830.1:n.2287_2290dup
XR_002956831.1:n.1962_1965dup
XR_002956832.1:n.1286_1289dup
NM_012203.2:c.867_870dup MANE Select	NP_036335.1:p.Leu291AspfsTer22