Canonical Allele Identifier: CA5059354

Gene: GRHPR

Linked Data

• dbSNP Id: rs749509830
• ExAC: 9:37436780 C / CCAAA
• gnomAD v2: 9-37436780-C-CCAAA
• gnomAD v3: 9-37436783-C-CCAAA
• gnomAD v4: 9-37436783-C-CCAAA
• MyVariant Identifiers: chr9:g.37436780_37436781insCAAA (hg19) ; chr9:g.37436783_37436784insCAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436786_37436789dup , CM000671.2:g.37436786_37436789dup	GRCh38
NC_000009.11:g.37436783_37436786dup , CM000671.1:g.37436783_37436786dup	GRCh37
NC_000009.10:g.37426783_37426786dup	NCBI36
NG_008135.1:g.19077_19080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.*4_*7dup MANE Select	ENSP00000313432.6:n.*4_*7dup
ENST00000318158.10:c.*4_*7dup	ENSP00000313432.6:n.*4_*7dup
ENST00000460882.5:n.1018_1021dup
ENST00000480596.5:n.1692_1695dup
ENST00000494290.1:c.*52-95_*52-92dup	ENSP00000432021.1:n.*52-95_*52-92dup
ENST00000497693.1:n.4559_4562dup
NM_012203.1:c.*4_*7dup	NP_036335.1:n.*4_*7dup
XM_005251631.1:c.*4_*7dup	XP_005251688.1:n.*4_*7dup
XM_011518073.1:c.*4_*7dup	XP_011516375.1:n.*4_*7dup
XM_017015320.2:c.946-625_946-622dup	XP_016870809.1:n.946-625_946-622dup
XM_017015321.2:c.866-625_866-622dup	XP_016870810.1:n.866-625_866-622dup
XM_017015323.2:c.544-625_544-622dup	XP_016870812.1:n.544-625_544-622dup
XM_024447716.1:c.1219-625_1219-622dup	XP_024303484.1:n.1219-625_1219-622dup
XM_024447717.1:c.1139-625_1139-622dup	XP_024303485.1:n.1139-625_1139-622dup
XR_002956828.1:n.1234-625_1234-622dup
XR_002956829.1:n.1154-625_1154-622dup
XR_002956830.1:n.2411_2414dup
XR_002956831.1:n.2086_2089dup
XR_002956832.1:n.1410_1413dup
NM_012203.2:c.*4_*7dup MANE Select	NP_036335.1:n.*4_*7dup