Canonical Allele Identifier: CA2580080513
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 2055146
ClinVar RCV Id: RCV002933183

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426531_37426532insA , CM000671.2:g.37426531_37426532insA GRCh38
NC_000009.11:g.37426528_37426529insA , CM000671.1:g.37426528_37426529insA GRCh37
NC_000009.10:g.37416528_37416529insA NCBI36
NG_008135.1:g.8822_8823insA

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.288-7_288-6insA MANE Select ENSP00000313432.6:n.288-7_288-6insA
ENST00000318158.10:c.288-7_288-6insA ENSP00000313432.6:n.288-7_288-6insA
ENST00000377824.8:n.325-7_325-6insA
ENST00000460882.5:n.315-7_315-6insA
ENST00000487399.5:n.833_834insA
ENST00000491488.5:n.110-1953_110-1952insA
ENST00000493368.5:n.345-7_345-6insA
ENST00000607784.1:c.288-7_288-6insA ENSP00000475569.1:n.288-7_288-6insA
NM_012203.1:c.288-7_288-6insA NP_036335.1:n.288-7_288-6insA
XM_005251631.1:c.84-1953_84-1952insA XP_005251688.1:n.84-1953_84-1952insA
XM_011518073.1:c.-475-7_-475-6insA XP_011516375.1:n.-475-7_-475-6insA
XR_929374.1:n.373-7_373-6insA
XM_017015320.2:c.288-7_288-6insA XP_016870809.1:n.288-7_288-6insA
XM_017015321.2:c.288-7_288-6insA XP_016870810.1:n.288-7_288-6insA
XM_017015323.2:c.-475-7_-475-6insA XP_016870812.1:n.-475-7_-475-6insA
XM_024447716.1:c.561-7_561-6insA XP_024303484.1:n.561-7_561-6insA
XM_024447717.1:c.561-7_561-6insA XP_024303485.1:n.561-7_561-6insA
XR_002956828.1:n.576-7_576-6insA
XR_002956829.1:n.576-7_576-6insA
XR_002956830.1:n.347-7_347-6insA
XR_002956831.1:n.139-1953_139-1952insA
XR_002956832.1:n.347-7_347-6insA
NM_012203.2:c.288-7_288-6insA MANE Select NP_036335.1:n.288-7_288-6insA