Canonical Allele Identifier: CA863718629

Gene: GRHPR

Linked Data

• dbSNP Id: rs1300638758
• gnomAD v3: 9-37429595-TGGA-T
• gnomAD v4: 9-37429595-TGGA-T
• MyVariant Identifiers: chr9:g.37429593_37429595del (hg19) ; chr9:g.37429596_37429598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429600_37429602del , CM000671.2:g.37429600_37429602del	GRCh38
NC_000009.11:g.37429597_37429599del , CM000671.1:g.37429597_37429599del	GRCh37
NC_000009.10:g.37419597_37419599del	NCBI36
NG_008135.1:g.11891_11893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.494-132_494-130del MANE Select	ENSP00000313432.6:n.494-132_494-130del
ENST00000318158.10:c.494-132_494-130del	ENSP00000313432.6:n.494-132_494-130del
ENST00000377824.8:n.531-132_531-130del
ENST00000460882.5:n.521-132_521-130del
ENST00000480596.5:n.1063_1065del
ENST00000491488.5:n.199-132_199-130del
ENST00000494290.1:c.-68_-66del	ENSP00000432021.1:n.-68_-66del
ENST00000497693.1:n.1895_1897del
ENST00000607784.1:c.494-132_494-130del	ENSP00000475569.1:n.494-132_494-130del
NM_012203.1:c.494-132_494-130del	NP_036335.1:n.494-132_494-130del
XM_005251631.1:c.173-132_173-130del	XP_005251688.1:n.173-132_173-130del
XM_011518073.1:c.92-132_92-130del	XP_011516375.1:n.92-132_92-130del
XR_929374.1:n.939-132_939-130del
XM_017015320.2:c.494-132_494-130del	XP_016870809.1:n.494-132_494-130del
XM_017015321.2:c.494-132_494-130del	XP_016870810.1:n.494-132_494-130del
XM_017015323.2:c.92-132_92-130del	XP_016870812.1:n.92-132_92-130del
XM_024447716.1:c.767-132_767-130del	XP_024303484.1:n.767-132_767-130del
XM_024447717.1:c.767-132_767-130del	XP_024303485.1:n.767-132_767-130del
XR_002956828.1:n.782-132_782-130del
XR_002956829.1:n.782-132_782-130del
XR_002956830.1:n.553-132_553-130del
XR_002956831.1:n.228-132_228-130del
XR_002956832.1:n.913-132_913-130del
NM_012203.2:c.494-132_494-130del MANE Select	NP_036335.1:n.494-132_494-130del