Canonical Allele Identifier: CA2783586079
Gene: GRHPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428732_37428733del , CM000671.2:g.37428732_37428733del GRCh38
NC_000009.11:g.37428729_37428730del , CM000671.1:g.37428729_37428730del GRCh37
NC_000009.10:g.37418729_37418730del NCBI36
NG_008135.1:g.11023_11024del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.493+160_493+161del MANE Select ENSP00000313432.6:n.493+160_493+161del
ENST00000318158.10:c.493+160_493+161del ENSP00000313432.6:n.493+160_493+161del
ENST00000377824.8:n.530+160_530+161del
ENST00000460882.5:n.520+160_520+161del
ENST00000480596.5:n.195_196del
ENST00000491488.5:n.198+160_198+161del
ENST00000493368.5:n.710_711del
ENST00000497693.1:n.1027_1028del
ENST00000607784.1:c.493+160_493+161del ENSP00000475569.1:n.493+160_493+161del
NM_012203.1:c.493+160_493+161del NP_036335.1:n.493+160_493+161del
XM_005251631.1:c.172+160_172+161del XP_005251688.1:n.172+160_172+161del
XM_011518073.1:c.-110_-109del XP_011516375.1:n.-110_-109del
XR_929374.1:n.738_739del
XM_017015320.2:c.493+160_493+161del XP_016870809.1:n.493+160_493+161del
XM_017015321.2:c.493+160_493+161del XP_016870810.1:n.493+160_493+161del
XM_017015323.2:c.-110_-109del XP_016870812.1:n.-110_-109del
XM_024447716.1:c.766+160_766+161del XP_024303484.1:n.766+160_766+161del
XM_024447717.1:c.766+160_766+161del XP_024303485.1:n.766+160_766+161del
XR_002956828.1:n.781+160_781+161del
XR_002956829.1:n.781+160_781+161del
XR_002956830.1:n.552+160_552+161del
XR_002956831.1:n.227+160_227+161del
XR_002956832.1:n.712_713del
NM_012203.2:c.493+160_493+161del MANE Select NP_036335.1:n.493+160_493+161del