Canonical Allele Identifier: CA2689984603

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37436687-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436690del , CM000671.2:g.37436690del	GRCh38
NC_000009.11:g.37436687del , CM000671.1:g.37436687del	GRCh37
NC_000009.10:g.37426687del	NCBI36
NG_008135.1:g.18981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.895del MANE Select	ENSP00000313432.6:p.His299ThrfsTer19
ENST00000318158.10:c.895del	ENSP00000313432.6:p.His299ThrfsTer19
ENST00000460882.5:n.922del
ENST00000480596.5:n.1596del
ENST00000491488.5:n.600del
ENST00000494290.1:c.*52-191del	ENSP00000432021.1:n.*52-191del
ENST00000497693.1:n.4463del
NM_012203.1:c.895del	NP_036335.1:p.His299ThrfsTer19
XM_005251631.1:c.574del	XP_005251688.1:p.His192ThrfsTer19
XM_011518073.1:c.493del	XP_011516375.1:p.His165ThrfsTer19
XM_017015320.2:c.946-721del	XP_016870809.1:n.946-721del
XM_017015321.2:c.866-721del	XP_016870810.1:n.866-721del
XM_017015323.2:c.544-721del	XP_016870812.1:n.544-721del
XM_024447716.1:c.1219-721del	XP_024303484.1:n.1219-721del
XM_024447717.1:c.1139-721del	XP_024303485.1:n.1139-721del
XR_002956828.1:n.1234-721del
XR_002956829.1:n.1154-721del
XR_002956830.1:n.2315del
XR_002956831.1:n.1990del
XR_002956832.1:n.1314del
NM_012203.2:c.895del MANE Select	NP_036335.1:p.His299ThrfsTer19