Canonical Allele Identifier: CA2689984605

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37436713-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436715del , CM000671.2:g.37436715del	GRCh38
NC_000009.11:g.37436712del , CM000671.1:g.37436712del	GRCh37
NC_000009.10:g.37426712del	NCBI36
NG_008135.1:g.19006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.920del MANE Select	ENSP00000313432.6:p.Leu307CysfsTer11
ENST00000318158.10:c.920del	ENSP00000313432.6:p.Leu307CysfsTer11
ENST00000460882.5:n.947del
ENST00000480596.5:n.1621del
ENST00000494290.1:c.*52-166del	ENSP00000432021.1:n.*52-166del
ENST00000497693.1:n.4488del
NM_012203.1:c.920del	NP_036335.1:p.Leu307CysfsTer11
XM_005251631.1:c.599del	XP_005251688.1:p.Leu200CysfsTer11
XM_011518073.1:c.518del	XP_011516375.1:p.Leu173CysfsTer11
XM_017015320.2:c.946-696del	XP_016870809.1:n.946-696del
XM_017015321.2:c.866-696del	XP_016870810.1:n.866-696del
XM_017015323.2:c.544-696del	XP_016870812.1:n.544-696del
XM_024447716.1:c.1219-696del	XP_024303484.1:n.1219-696del
XM_024447717.1:c.1139-696del	XP_024303485.1:n.1139-696del
XR_002956828.1:n.1234-696del
XR_002956829.1:n.1154-696del
XR_002956830.1:n.2340del
XR_002956831.1:n.2015del
XR_002956832.1:n.1339del
NM_012203.2:c.920del MANE Select	NP_036335.1:p.Leu307CysfsTer11