Canonical Allele Identifier: CA5059084

Gene: GRHPR

Linked Data

• dbSNP Id: rs759810267
• ExAC: 9:37428624 TCC / T
• gnomAD v2: 9-37428624-TCC-T
• gnomAD v4: 9-37428627-TCC-T
• MyVariant Identifiers: chr9:g.37428625_37428626del (hg19) ; chr9:g.37428628_37428629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428629_37428630del , CM000671.2:g.37428629_37428630del	GRCh38
NC_000009.11:g.37428626_37428627del , CM000671.1:g.37428626_37428627del	GRCh37
NC_000009.10:g.37418626_37418627del	NCBI36
NG_008135.1:g.10920_10921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.493+57_493+58del MANE Select	ENSP00000313432.6:n.493+57_493+58del
ENST00000318158.10:c.493+57_493+58del	ENSP00000313432.6:n.493+57_493+58del
ENST00000377824.8:n.530+57_530+58del
ENST00000460882.5:n.520+57_520+58del
ENST00000480596.5:n.92_93del
ENST00000491488.5:n.198+57_198+58del
ENST00000493368.5:n.607_608del
ENST00000497693.1:n.924_925del
ENST00000607784.1:c.493+57_493+58del	ENSP00000475569.1:n.493+57_493+58del
NM_012203.1:c.493+57_493+58del	NP_036335.1:n.493+57_493+58del
XM_005251631.1:c.172+57_172+58del	XP_005251688.1:n.172+57_172+58del
XM_011518073.1:c.-213_-212del	XP_011516375.1:n.-213_-212del
XR_929374.1:n.635_636del
XM_017015320.2:c.493+57_493+58del	XP_016870809.1:n.493+57_493+58del
XM_017015321.2:c.493+57_493+58del	XP_016870810.1:n.493+57_493+58del
XM_017015323.2:c.-213_-212del	XP_016870812.1:n.-213_-212del
XM_024447716.1:c.766+57_766+58del	XP_024303484.1:n.766+57_766+58del
XM_024447717.1:c.766+57_766+58del	XP_024303485.1:n.766+57_766+58del
XR_002956828.1:n.781+57_781+58del
XR_002956829.1:n.781+57_781+58del
XR_002956830.1:n.552+57_552+58del
XR_002956831.1:n.227+57_227+58del
XR_002956832.1:n.609_610del
NM_012203.2:c.493+57_493+58del MANE Select	NP_036335.1:n.493+57_493+58del