Canonical Allele Identifier: CA2739269250

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2818967
• ClinVar RCV Id: RCV003706074

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432098_37432099del , CM000671.2:g.37432098_37432099del	GRCh38
NC_000009.11:g.37432095_37432096del , CM000671.1:g.37432095_37432096del	GRCh37
NC_000009.10:g.37422095_37422096del	NCBI36
NG_008135.1:g.14389_14390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.825_826del MANE Select	ENSP00000313432.6:p.Leu276AlafsTer?
ENST00000318158.10:c.825_826del	ENSP00000313432.6:p.Leu276AlafsTer?
ENST00000460882.5:n.852_853del
ENST00000480596.5:n.1526_1527del
ENST00000482603.1:n.278_279del
ENST00000491488.5:n.530_531del
ENST00000494290.1:c.*51+947_*51+948del	ENSP00000432021.1:n.*51+947_*51+948del
ENST00000497693.1:n.4393_4394del
ENST00000512404.2:n.12_13del
ENST00000607784.1:c.825_826del	ENSP00000475569.1:p.Leu276AlafsTer?
NM_012203.1:c.825_826del	NP_036335.1:p.Leu276AlafsTer?
XM_005251631.1:c.504_505del	XP_005251688.1:p.Leu169AlafsTer?
XM_011518073.1:c.423_424del	XP_011516375.1:p.Leu142AlafsTer?
XM_017015320.2:c.825_826del	XP_016870809.1:p.Leu276AlafsTer13
XM_017015321.2:c.825_826del	XP_016870810.1:p.Leu276AlafsTer13
XM_017015323.2:c.423_424del	XP_016870812.1:p.Leu142AlafsTer13
XM_024447716.1:c.1098_1099del	XP_024303484.1:p.Leu367AlafsTer13
XM_024447717.1:c.1098_1099del	XP_024303485.1:p.Leu367AlafsTer13
XR_002956828.1:n.1113_1114del
XR_002956829.1:n.1113_1114del
XR_002956830.1:n.2245_2246del
XR_002956831.1:n.1920_1921del
XR_002956832.1:n.1244_1245del
NM_012203.2:c.825_826del MANE Select	NP_036335.1:p.Leu276AlafsTer?