Canonical Allele Identifier: CA5059312

Gene: GRHPR

Linked Data

• dbSNP Id: rs566179364
• ExAC: 9:37436620 CCTT / C
• gnomAD v2: 9-37436620-CCTT-C
• gnomAD v3: 9-37436623-CCTT-C
• gnomAD v4: 9-37436623-CCTT-C
• MyVariant Identifiers: chr9:g.37436621_37436623del (hg19) ; chr9:g.37436625_37436627del (hg38) ; chr9:g.37436624_37436626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436627_37436629del , CM000671.2:g.37436627_37436629del	GRCh38
NC_000009.11:g.37436624_37436626del , CM000671.1:g.37436624_37436626del	GRCh37
NC_000009.10:g.37426624_37426626del	NCBI36
NG_008135.1:g.18918_18920del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.866-34_866-32del MANE Select	ENSP00000313432.6:n.866-34_866-32del
ENST00000318158.10:c.866-34_866-32del	ENSP00000313432.6:n.866-34_866-32del
ENST00000460882.5:n.893-34_893-32del
ENST00000480596.5:n.1567-34_1567-32del
ENST00000491488.5:n.571-34_571-32del
ENST00000494290.1:c.*52-254_*52-252del	ENSP00000432021.1:n.*52-254_*52-252del
ENST00000497693.1:n.4434-34_4434-32del
NM_012203.1:c.866-34_866-32del	NP_036335.1:n.866-34_866-32del
XM_005251631.1:c.545-34_545-32del	XP_005251688.1:n.545-34_545-32del
XM_011518073.1:c.464-34_464-32del	XP_011516375.1:n.464-34_464-32del
XM_017015320.2:c.946-784_946-782del	XP_016870809.1:n.946-784_946-782del
XM_017015321.2:c.866-784_866-782del	XP_016870810.1:n.866-784_866-782del
XM_017015323.2:c.544-784_544-782del	XP_016870812.1:n.544-784_544-782del
XM_024447716.1:c.1219-784_1219-782del	XP_024303484.1:n.1219-784_1219-782del
XM_024447717.1:c.1139-784_1139-782del	XP_024303485.1:n.1139-784_1139-782del
XR_002956828.1:n.1234-784_1234-782del
XR_002956829.1:n.1154-784_1154-782del
XR_002956830.1:n.2286-34_2286-32del
XR_002956831.1:n.1961-34_1961-32del
XR_002956832.1:n.1285-34_1285-32del
NM_012203.2:c.866-34_866-32del MANE Select	NP_036335.1:n.866-34_866-32del