Canonical Allele Identifier: CA2689984599

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2999747
• ClinVar RCV Id: RCV003854858
• gnomAD v4: 9-37436650-CTCCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436654_37436658del , CM000671.2:g.37436654_37436658del	GRCh38
NC_000009.11:g.37436651_37436655del , CM000671.1:g.37436651_37436655del	GRCh37
NC_000009.10:g.37426651_37426655del	NCBI36
NG_008135.1:g.18945_18949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.866-7_866-3del MANE Select	ENSP00000313432.6:n.866-7_866-3del
ENST00000318158.10:c.866-7_866-3del	ENSP00000313432.6:n.866-7_866-3del
ENST00000460882.5:n.893-7_893-3del
ENST00000480596.5:n.1567-7_1567-3del
ENST00000491488.5:n.571-7_571-3del
ENST00000494290.1:c.*52-227_*52-223del	ENSP00000432021.1:n.*52-227_*52-223del
ENST00000497693.1:n.4434-7_4434-3del
NM_012203.1:c.866-7_866-3del	NP_036335.1:n.866-7_866-3del
XM_005251631.1:c.545-7_545-3del	XP_005251688.1:n.545-7_545-3del
XM_011518073.1:c.464-7_464-3del	XP_011516375.1:n.464-7_464-3del
XM_017015320.2:c.946-757_946-753del	XP_016870809.1:n.946-757_946-753del
XM_017015321.2:c.866-757_866-753del	XP_016870810.1:n.866-757_866-753del
XM_017015323.2:c.544-757_544-753del	XP_016870812.1:n.544-757_544-753del
XM_024447716.1:c.1219-757_1219-753del	XP_024303484.1:n.1219-757_1219-753del
XM_024447717.1:c.1139-757_1139-753del	XP_024303485.1:n.1139-757_1139-753del
XR_002956828.1:n.1234-757_1234-753del
XR_002956829.1:n.1154-757_1154-753del
XR_002956830.1:n.2286-7_2286-3del
XR_002956831.1:n.1961-7_1961-3del
XR_002956832.1:n.1285-7_1285-3del
NM_012203.2:c.866-7_866-3del MANE Select	NP_036335.1:n.866-7_866-3del