Canonical Allele Identifier: CA5059047

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2882427
• ClinVar RCV Id: RCV003719564
• dbSNP Id: rs747097881
• ExAC: 9:37428464 CCT / C
• gnomAD v2: 9-37428464-CCT-C
• gnomAD v3: 9-37428467-CCT-C
• gnomAD v4: 9-37428467-CCT-C
• MyVariant Identifiers: chr9:g.37428465_37428466del (hg19) ; chr9:g.37428468_37428469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428475_37428476del , CM000671.2:g.37428475_37428476del	GRCh38
NC_000009.11:g.37428472_37428473del , CM000671.1:g.37428472_37428473del	GRCh37
NC_000009.10:g.37418472_37418473del	NCBI36
NG_008135.1:g.10766_10767del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.405-9_405-8del MANE Select	ENSP00000313432.6:n.405-9_405-8del
ENST00000318158.10:c.405-9_405-8del	ENSP00000313432.6:n.405-9_405-8del
ENST00000377824.8:n.442-9_442-8del
ENST00000460882.5:n.432-9_432-8del
ENST00000491488.5:n.110-9_110-8del
ENST00000493368.5:n.462-9_462-8del
ENST00000497693.1:n.770_771del
ENST00000607784.1:c.405-9_405-8del	ENSP00000475569.1:n.405-9_405-8del
NM_012203.1:c.405-9_405-8del	NP_036335.1:n.405-9_405-8del
XM_005251631.1:c.84-9_84-8del	XP_005251688.1:n.84-9_84-8del
XM_011518073.1:c.-358-9_-358-8del	XP_011516375.1:n.-358-9_-358-8del
XR_929374.1:n.490-9_490-8del
XM_017015320.2:c.405-9_405-8del	XP_016870809.1:n.405-9_405-8del
XM_017015321.2:c.405-9_405-8del	XP_016870810.1:n.405-9_405-8del
XM_017015323.2:c.-358-9_-358-8del	XP_016870812.1:n.-358-9_-358-8del
XM_024447716.1:c.678-9_678-8del	XP_024303484.1:n.678-9_678-8del
XM_024447717.1:c.678-9_678-8del	XP_024303485.1:n.678-9_678-8del
XR_002956828.1:n.693-9_693-8del
XR_002956829.1:n.693-9_693-8del
XR_002956830.1:n.464-9_464-8del
XR_002956831.1:n.139-9_139-8del
XR_002956832.1:n.464-9_464-8del
NM_012203.2:c.405-9_405-8del MANE Select	NP_036335.1:n.405-9_405-8del