Canonical Allele Identifier: CA5059117

Gene: GRHPR

Linked Data

• dbSNP Id: rs761290483
• ExAC: 9:37429667 GCTGGGTGGTGTCC / G
• gnomAD v2: 9-37429667-GCTGGGTGGTGTCC-G
• MyVariant Identifiers: chr9:g.37429668_37429680del (hg19) ; chr9:g.37429671_37429683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429673_37429685del , CM000671.2:g.37429673_37429685del	GRCh38
NC_000009.11:g.37429670_37429682del , CM000671.1:g.37429670_37429682del	GRCh37
NC_000009.10:g.37419670_37419682del	NCBI36
NG_008135.1:g.11964_11976del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.494-59_494-47del MANE Select	ENSP00000313432.6:n.494-59_494-47del
ENST00000318158.10:c.494-59_494-47del	ENSP00000313432.6:n.494-59_494-47del
ENST00000377824.8:n.531-59_531-47del
ENST00000460882.5:n.521-59_521-47del
ENST00000480596.5:n.1136_1148del
ENST00000491488.5:n.199-59_199-47del
ENST00000494290.1:c.6_18del	ENSP00000432021.1:p.Gly3ProfsTer15
ENST00000497693.1:n.1968_1980del
ENST00000607784.1:c.494-59_494-47del	ENSP00000475569.1:n.494-59_494-47del
NM_012203.1:c.494-59_494-47del	NP_036335.1:n.494-59_494-47del
XM_005251631.1:c.173-59_173-47del	XP_005251688.1:n.173-59_173-47del
XM_011518073.1:c.92-59_92-47del	XP_011516375.1:n.92-59_92-47del
XR_929374.1:n.939-59_939-47del
XM_017015320.2:c.494-59_494-47del	XP_016870809.1:n.494-59_494-47del
XM_017015321.2:c.494-59_494-47del	XP_016870810.1:n.494-59_494-47del
XM_017015323.2:c.92-59_92-47del	XP_016870812.1:n.92-59_92-47del
XM_024447716.1:c.767-59_767-47del	XP_024303484.1:n.767-59_767-47del
XM_024447717.1:c.767-59_767-47del	XP_024303485.1:n.767-59_767-47del
XR_002956828.1:n.782-59_782-47del
XR_002956829.1:n.782-59_782-47del
XR_002956830.1:n.553-59_553-47del
XR_002956831.1:n.228-59_228-47del
XR_002956832.1:n.913-59_913-47del
NM_012203.2:c.494-59_494-47del MANE Select	NP_036335.1:n.494-59_494-47del