Canonical Allele Identifier: CA2689955022
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428787_37428788del , CM000671.2:g.37428787_37428788del GRCh38
NC_000009.11:g.37428784_37428785del , CM000671.1:g.37428784_37428785del GRCh37
NC_000009.10:g.37418784_37418785del NCBI36
NG_008135.1:g.11078_11079del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.493+215_493+216del MANE Select ENSP00000313432.6:n.493+215_493+216del
ENST00000318158.10:c.493+215_493+216del ENSP00000313432.6:n.493+215_493+216del
ENST00000377824.8:n.530+215_530+216del
ENST00000460882.5:n.520+215_520+216del
ENST00000480596.5:n.250_251del
ENST00000491488.5:n.198+215_198+216del
ENST00000493368.5:n.765_766del
ENST00000497693.1:n.1082_1083del
ENST00000607784.1:c.493+215_493+216del ENSP00000475569.1:n.493+215_493+216del
NM_012203.1:c.493+215_493+216del NP_036335.1:n.493+215_493+216del
XM_005251631.1:c.172+215_172+216del XP_005251688.1:n.172+215_172+216del
XM_011518073.1:c.-55_-54del XP_011516375.1:n.-55_-54del
XR_929374.1:n.793_794del
XM_017015320.2:c.493+215_493+216del XP_016870809.1:n.493+215_493+216del
XM_017015321.2:c.493+215_493+216del XP_016870810.1:n.493+215_493+216del
XM_017015323.2:c.-55_-54del XP_016870812.1:n.-55_-54del
XM_024447716.1:c.766+215_766+216del XP_024303484.1:n.766+215_766+216del
XM_024447717.1:c.766+215_766+216del XP_024303485.1:n.766+215_766+216del
XR_002956828.1:n.781+215_781+216del
XR_002956829.1:n.781+215_781+216del
XR_002956830.1:n.552+215_552+216del
XR_002956831.1:n.227+215_227+216del
XR_002956832.1:n.767_768del
NM_012203.2:c.493+215_493+216del MANE Select NP_036335.1:n.493+215_493+216del