Canonical Allele Identifier: CA5059356

Gene: GRHPR

Linked Data

• dbSNP Id: rs774788936
• ExAC: 9:37436782 AAACAG / A
• gnomAD v2: 9-37436782-AAACAG-A
• gnomAD v3: 9-37436785-AAACAG-A
• gnomAD v4: 9-37436785-AAACAG-A
• MyVariant Identifiers: chr9:g.37436783_37436787del (hg19) ; chr9:g.37436786_37436790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436786_37436790del , CM000671.2:g.37436786_37436790del	GRCh38
NC_000009.11:g.37436783_37436787del , CM000671.1:g.37436783_37436787del	GRCh37
NC_000009.10:g.37426783_37426787del	NCBI36
NG_008135.1:g.19077_19081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.*4_*8del MANE Select	ENSP00000313432.6:n.*4_*8del
ENST00000318158.10:c.*4_*8del	ENSP00000313432.6:n.*4_*8del
ENST00000460882.5:n.1018_1022del
ENST00000480596.5:n.1692_1696del
ENST00000494290.1:c.*52-95_*52-91del	ENSP00000432021.1:n.*52-95_*52-91del
ENST00000497693.1:n.4559_4563del
NM_012203.1:c.*4_*8del	NP_036335.1:n.*4_*8del
XM_005251631.1:c.*4_*8del	XP_005251688.1:n.*4_*8del
XM_011518073.1:c.*4_*8del	XP_011516375.1:n.*4_*8del
XM_017015320.2:c.946-625_946-621del	XP_016870809.1:n.946-625_946-621del
XM_017015321.2:c.866-625_866-621del	XP_016870810.1:n.866-625_866-621del
XM_017015323.2:c.544-625_544-621del	XP_016870812.1:n.544-625_544-621del
XM_024447716.1:c.1219-625_1219-621del	XP_024303484.1:n.1219-625_1219-621del
XM_024447717.1:c.1139-625_1139-621del	XP_024303485.1:n.1139-625_1139-621del
XR_002956828.1:n.1234-625_1234-621del
XR_002956829.1:n.1154-625_1154-621del
XR_002956830.1:n.2411_2415del
XR_002956831.1:n.2086_2090del
XR_002956832.1:n.1410_1414del
NM_012203.2:c.*4_*8del MANE Select	NP_036335.1:n.*4_*8del