Canonical Allele Identifier: CA192896228

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2028777
• ClinVar RCV Id: RCV002876310
• dbSNP Id: rs755814399
• MyVariant Identifiers: chr9:g.37436650_37436652del (hg19) ; chr9:g.37436653_37436655del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436653_37436655del , CM000671.2:g.37436653_37436655del	GRCh38
NC_000009.11:g.37436650_37436652del , CM000671.1:g.37436650_37436652del	GRCh37
NC_000009.10:g.37426650_37426652del	NCBI36
NG_008135.1:g.18944_18946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.866-8_866-6del MANE Select	ENSP00000313432.6:n.866-8_866-6del
ENST00000318158.10:c.866-8_866-6del	ENSP00000313432.6:n.866-8_866-6del
ENST00000460882.5:n.893-8_893-6del
ENST00000480596.5:n.1567-8_1567-6del
ENST00000491488.5:n.571-8_571-6del
ENST00000494290.1:c.*52-228_*52-226del	ENSP00000432021.1:n.*52-228_*52-226del
ENST00000497693.1:n.4434-8_4434-6del
NM_012203.1:c.866-8_866-6del	NP_036335.1:n.866-8_866-6del
XM_005251631.1:c.545-8_545-6del	XP_005251688.1:n.545-8_545-6del
XM_011518073.1:c.464-8_464-6del	XP_011516375.1:n.464-8_464-6del
XM_017015320.2:c.946-758_946-756del	XP_016870809.1:n.946-758_946-756del
XM_017015321.2:c.866-758_866-756del	XP_016870810.1:n.866-758_866-756del
XM_017015323.2:c.544-758_544-756del	XP_016870812.1:n.544-758_544-756del
XM_024447716.1:c.1219-758_1219-756del	XP_024303484.1:n.1219-758_1219-756del
XM_024447717.1:c.1139-758_1139-756del	XP_024303485.1:n.1139-758_1139-756del
XR_002956828.1:n.1234-758_1234-756del
XR_002956829.1:n.1154-758_1154-756del
XR_002956830.1:n.2286-8_2286-6del
XR_002956831.1:n.1961-8_1961-6del
XR_002956832.1:n.1285-8_1285-6del
NM_012203.2:c.866-8_866-6del MANE Select	NP_036335.1:n.866-8_866-6del