Canonical Allele Identifier: CA2689981430

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429968-GTTTAATCTACCTGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429969_37429983del , CM000671.2:g.37429969_37429983del	GRCh38
NC_000009.11:g.37429966_37429980del , CM000671.1:g.37429966_37429980del	GRCh37
NC_000009.10:g.37419966_37419980del	NCBI36
NG_008135.1:g.12260_12274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.598+133_598+147del MANE Select	ENSP00000313432.6:n.598+133_598+147del
ENST00000318158.10:c.598+133_598+147del	ENSP00000313432.6:n.598+133_598+147del
ENST00000377824.8:n.635+133_635+147del
ENST00000460882.5:n.625+133_625+147del
ENST00000480596.5:n.1299+133_1299+147del
ENST00000482603.1:n.51+133_51+147del
ENST00000491488.5:n.303+133_303+147del
ENST00000494290.1:c.169+133_169+147del	ENSP00000432021.1:n.169+133_169+147del
ENST00000497693.1:n.2264_2278del
ENST00000607784.1:c.598+133_598+147del	ENSP00000475569.1:n.598+133_598+147del
NM_012203.1:c.598+133_598+147del	NP_036335.1:n.598+133_598+147del
XM_005251631.1:c.277+133_277+147del	XP_005251688.1:n.277+133_277+147del
XM_011518073.1:c.196+133_196+147del	XP_011516375.1:n.196+133_196+147del
XR_929374.1:n.1043+133_1043+147del
XM_017015320.2:c.598+133_598+147del	XP_016870809.1:n.598+133_598+147del
XM_017015321.2:c.598+133_598+147del	XP_016870810.1:n.598+133_598+147del
XM_017015323.2:c.196+133_196+147del	XP_016870812.1:n.196+133_196+147del
XM_024447716.1:c.871+133_871+147del	XP_024303484.1:n.871+133_871+147del
XM_024447717.1:c.871+133_871+147del	XP_024303485.1:n.871+133_871+147del
XR_002956828.1:n.886+133_886+147del
XR_002956829.1:n.886+133_886+147del
XR_002956830.1:n.657+133_657+147del
XR_002956831.1:n.332+133_332+147del
XR_002956832.1:n.1017+133_1017+147del
NM_012203.2:c.598+133_598+147del MANE Select	NP_036335.1:n.598+133_598+147del