Canonical Allele Identifier: CA5059085

Gene: GRHPR

Linked Data

• dbSNP Id: rs769852092
• ExAC: 9:37428628 TGG / T
• gnomAD v2: 9-37428628-TGG-T
• gnomAD v4: 9-37428631-TGG-T
• MyVariant Identifiers: chr9:g.37428629_37428630del (hg19) ; chr9:g.37428632_37428633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428632_37428633del , CM000671.2:g.37428632_37428633del	GRCh38
NC_000009.11:g.37428629_37428630del , CM000671.1:g.37428629_37428630del	GRCh37
NC_000009.10:g.37418629_37418630del	NCBI36
NG_008135.1:g.10923_10924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.493+60_493+61del MANE Select	ENSP00000313432.6:n.493+60_493+61del
ENST00000318158.10:c.493+60_493+61del	ENSP00000313432.6:n.493+60_493+61del
ENST00000377824.8:n.530+60_530+61del
ENST00000460882.5:n.520+60_520+61del
ENST00000480596.5:n.95_96del
ENST00000491488.5:n.198+60_198+61del
ENST00000493368.5:n.610_611del
ENST00000497693.1:n.927_928del
ENST00000607784.1:c.493+60_493+61del	ENSP00000475569.1:n.493+60_493+61del
NM_012203.1:c.493+60_493+61del	NP_036335.1:n.493+60_493+61del
XM_005251631.1:c.172+60_172+61del	XP_005251688.1:n.172+60_172+61del
XM_011518073.1:c.-210_-209del	XP_011516375.1:n.-210_-209del
XR_929374.1:n.638_639del
XM_017015320.2:c.493+60_493+61del	XP_016870809.1:n.493+60_493+61del
XM_017015321.2:c.493+60_493+61del	XP_016870810.1:n.493+60_493+61del
XM_017015323.2:c.-210_-209del	XP_016870812.1:n.-210_-209del
XM_024447716.1:c.766+60_766+61del	XP_024303484.1:n.766+60_766+61del
XM_024447717.1:c.766+60_766+61del	XP_024303485.1:n.766+60_766+61del
XR_002956828.1:n.781+60_781+61del
XR_002956829.1:n.781+60_781+61del
XR_002956830.1:n.552+60_552+61del
XR_002956831.1:n.227+60_227+61del
XR_002956832.1:n.612_613del
NM_012203.2:c.493+60_493+61del MANE Select	NP_036335.1:n.493+60_493+61del