Canonical Allele Identifier: CA2689981349
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429853_37429857del , CM000671.2:g.37429853_37429857del GRCh38
NC_000009.11:g.37429850_37429854del , CM000671.1:g.37429850_37429854del GRCh37
NC_000009.10:g.37419850_37419854del NCBI36
NG_008135.1:g.12144_12148del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.598+17_598+21del MANE Select ENSP00000313432.6:n.598+17_598+21del
ENST00000318158.10:c.598+17_598+21del ENSP00000313432.6:n.598+17_598+21del
ENST00000377824.8:n.635+17_635+21del
ENST00000460882.5:n.625+17_625+21del
ENST00000480596.5:n.1299+17_1299+21del
ENST00000482603.1:n.51+17_51+21del
ENST00000491488.5:n.303+17_303+21del
ENST00000494290.1:c.169+17_169+21del ENSP00000432021.1:n.169+17_169+21del
ENST00000497693.1:n.2148_2152del
ENST00000607784.1:c.598+17_598+21del ENSP00000475569.1:n.598+17_598+21del
NM_012203.1:c.598+17_598+21del NP_036335.1:n.598+17_598+21del
XM_005251631.1:c.277+17_277+21del XP_005251688.1:n.277+17_277+21del
XM_011518073.1:c.196+17_196+21del XP_011516375.1:n.196+17_196+21del
XR_929374.1:n.1043+17_1043+21del
XM_017015320.2:c.598+17_598+21del XP_016870809.1:n.598+17_598+21del
XM_017015321.2:c.598+17_598+21del XP_016870810.1:n.598+17_598+21del
XM_017015323.2:c.196+17_196+21del XP_016870812.1:n.196+17_196+21del
XM_024447716.1:c.871+17_871+21del XP_024303484.1:n.871+17_871+21del
XM_024447717.1:c.871+17_871+21del XP_024303485.1:n.871+17_871+21del
XR_002956828.1:n.886+17_886+21del
XR_002956829.1:n.886+17_886+21del
XR_002956830.1:n.657+17_657+21del
XR_002956831.1:n.332+17_332+21del
XR_002956832.1:n.1017+17_1017+21del
NM_012203.2:c.598+17_598+21del MANE Select NP_036335.1:n.598+17_598+21del