Canonical Allele Identifier: CA2689981332

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429815-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429816del , CM000671.2:g.37429816del	GRCh38
NC_000009.11:g.37429813del , CM000671.1:g.37429813del	GRCh37
NC_000009.10:g.37419813del	NCBI36
NG_008135.1:g.12107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.578del MANE Select	ENSP00000313432.6:p.Ala193GlufsTer26
ENST00000318158.10:c.578del	ENSP00000313432.6:p.Ala193GlufsTer26
ENST00000377824.8:n.615del
ENST00000460882.5:n.605del
ENST00000480596.5:n.1279del
ENST00000482603.1:n.31del
ENST00000491488.5:n.283del
ENST00000494290.1:c.149del	ENSP00000432021.1:p.Ala50GlufsTer26
ENST00000497693.1:n.2111del
ENST00000607784.1:c.578del	ENSP00000475569.1:p.Ala193GlufsTer26
NM_012203.1:c.578del	NP_036335.1:p.Ala193GlufsTer26
XM_005251631.1:c.257del	XP_005251688.1:p.Ala86GlufsTer26
XM_011518073.1:c.176del	XP_011516375.1:p.Ala59GlufsTer26
XR_929374.1:n.1023del
XM_017015320.2:c.578del	XP_016870809.1:p.Ala193GlufsTer26
XM_017015321.2:c.578del	XP_016870810.1:p.Ala193GlufsTer26
XM_017015323.2:c.176del	XP_016870812.1:p.Ala59GlufsTer26
XM_024447716.1:c.851del	XP_024303484.1:p.Ala284GlufsTer26
XM_024447717.1:c.851del	XP_024303485.1:p.Ala284GlufsTer26
XR_002956828.1:n.866del
XR_002956829.1:n.866del
XR_002956830.1:n.637del
XR_002956831.1:n.312del
XR_002956832.1:n.997del
NM_012203.2:c.578del MANE Select	NP_036335.1:p.Ala193GlufsTer26