Canonical Allele Identifier: CA658822484

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 550129
• ClinVar RCV Id: RCV000664776
• dbSNP Id: rs1554749707
• MyVariant Identifiers: chr9:g.37436759_37436760del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436759_37436760del , CM000671.2:g.37436759_37436760del	GRCh38
NC_000009.11:g.37436756_37436757del , CM000671.1:g.37436756_37436757del	GRCh37
NC_000009.10:g.37426756_37426757del	NCBI36
NG_008135.1:g.19050_19051del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.964_965del MANE Select	ENSP00000313432.6:p.Met322AlafsTer2
ENST00000318158.10:c.964_965del	ENSP00000313432.6:p.Met322AlafsTer2
ENST00000460882.5:n.991_992del
ENST00000480596.5:n.1665_1666del
ENST00000494290.1:c.*52-122_*52-121del	ENSP00000432021.1:n.*52-122_*52-121del
ENST00000497693.1:n.4532_4533del
NM_012203.1:c.964_965del	NP_036335.1:p.Met322AlafsTer2
XM_005251631.1:c.643_644del	XP_005251688.1:p.Met215AlafsTer2
XM_011518073.1:c.562_563del	XP_011516375.1:p.Met188AlafsTer2
XM_017015320.2:c.946-652_946-651del	XP_016870809.1:n.946-652_946-651del
XM_017015321.2:c.866-652_866-651del	XP_016870810.1:n.866-652_866-651del
XM_017015323.2:c.544-652_544-651del	XP_016870812.1:n.544-652_544-651del
XM_024447716.1:c.1219-652_1219-651del	XP_024303484.1:n.1219-652_1219-651del
XM_024447717.1:c.1139-652_1139-651del	XP_024303485.1:n.1139-652_1139-651del
XR_002956828.1:n.1234-652_1234-651del
XR_002956829.1:n.1154-652_1154-651del
XR_002956830.1:n.2384_2385del
XR_002956831.1:n.2059_2060del
XR_002956832.1:n.1383_1384del
NM_012203.2:c.964_965del MANE Select	NP_036335.1:p.Met322AlafsTer2