Canonical Allele Identifier: CA5059322

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2731099
• ClinVar RCV Id: RCV003579912
• dbSNP Id: rs34302950
• ExAC: 9:37436632 CCTCT / C
• gnomAD v2: 9-37436632-CCTCT-C
• gnomAD v3: 9-37436635-CCTCT-C
• gnomAD v4: 9-37436635-CCTCT-C
• MyVariant Identifiers: chr9:g.37436637_37436640del (hg19) ; chr9:g.37436635_37436638del (hg19) ; chr9:g.37436633_37436636del (hg19) ; chr9:g.37436640_37436643del (hg38) ; chr9:g.37436638_37436641del (hg38) ; chr9:g.37436636_37436639del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436649_37436652del , CM000671.2:g.37436649_37436652del	GRCh38
NC_000009.11:g.37436646_37436649del , CM000671.1:g.37436646_37436649del	GRCh37
NC_000009.10:g.37426646_37426649del	NCBI36
NG_008135.1:g.18940_18943del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.866-12_866-9del MANE Select	ENSP00000313432.6:n.866-12_866-9del
ENST00000318158.10:c.866-12_866-9del	ENSP00000313432.6:n.866-12_866-9del
ENST00000460882.5:n.893-12_893-9del
ENST00000480596.5:n.1567-12_1567-9del
ENST00000491488.5:n.571-12_571-9del
ENST00000494290.1:c.*52-232_*52-229del	ENSP00000432021.1:n.*52-232_*52-229del
ENST00000497693.1:n.4434-12_4434-9del
NM_012203.1:c.866-12_866-9del	NP_036335.1:n.866-12_866-9del
XM_005251631.1:c.545-12_545-9del	XP_005251688.1:n.545-12_545-9del
XM_011518073.1:c.464-12_464-9del	XP_011516375.1:n.464-12_464-9del
XM_017015320.2:c.946-762_946-759del	XP_016870809.1:n.946-762_946-759del
XM_017015321.2:c.866-762_866-759del	XP_016870810.1:n.866-762_866-759del
XM_017015323.2:c.544-762_544-759del	XP_016870812.1:n.544-762_544-759del
XM_024447716.1:c.1219-762_1219-759del	XP_024303484.1:n.1219-762_1219-759del
XM_024447717.1:c.1139-762_1139-759del	XP_024303485.1:n.1139-762_1139-759del
XR_002956828.1:n.1234-762_1234-759del
XR_002956829.1:n.1154-762_1154-759del
XR_002956830.1:n.2286-12_2286-9del
XR_002956831.1:n.1961-12_1961-9del
XR_002956832.1:n.1285-12_1285-9del
NM_012203.2:c.866-12_866-9del MANE Select	NP_036335.1:n.866-12_866-9del