Canonical Allele Identifier: CA5059358

Gene: GRHPR

Linked Data

• dbSNP Id: rs748410064
• ExAC: 9:37436785 CAGT / C
• MyVariant Identifiers: chr9:g.37436786_37436788del (hg19) ; chr9:g.37436789_37436791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436791_37436793del , CM000671.2:g.37436791_37436793del	GRCh38
NC_000009.11:g.37436788_37436790del , CM000671.1:g.37436788_37436790del	GRCh37
NC_000009.10:g.37426788_37426790del	NCBI36
NG_008135.1:g.19082_19084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.*9_*11del MANE Select	ENSP00000313432.6:n.*9_*11del
ENST00000318158.10:c.*9_*11del	ENSP00000313432.6:n.*9_*11del
ENST00000460882.5:n.1023_1025del
ENST00000480596.5:n.1697_1699del
ENST00000494290.1:c.*52-90_*52-88del	ENSP00000432021.1:n.*52-90_*52-88del
ENST00000497693.1:n.4564_4566del
NM_012203.1:c.*9_*11del	NP_036335.1:n.*9_*11del
XM_005251631.1:c.*9_*11del	XP_005251688.1:n.*9_*11del
XM_011518073.1:c.*9_*11del	XP_011516375.1:n.*9_*11del
XM_017015320.2:c.946-620_946-618del	XP_016870809.1:n.946-620_946-618del
XM_017015321.2:c.866-620_866-618del	XP_016870810.1:n.866-620_866-618del
XM_017015323.2:c.544-620_544-618del	XP_016870812.1:n.544-620_544-618del
XM_024447716.1:c.1219-620_1219-618del	XP_024303484.1:n.1219-620_1219-618del
XM_024447717.1:c.1139-620_1139-618del	XP_024303485.1:n.1139-620_1139-618del
XR_002956828.1:n.1234-620_1234-618del
XR_002956829.1:n.1154-620_1154-618del
XR_002956830.1:n.2416_2418del
XR_002956831.1:n.2091_2093del
XR_002956832.1:n.1415_1417del
NM_012203.2:c.*9_*11del MANE Select	NP_036335.1:n.*9_*11del