Canonical Allele Identifier: CA16041330

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 371081
• ClinVar RCV Id: RCV000409258
• dbSNP Id: rs1057516990
• MyVariant Identifiers: chr9:g.37429750del (hg19) ; chr9:g.37429753del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429753del , CM000671.2:g.37429753del	GRCh38
NC_000009.11:g.37429750del , CM000671.1:g.37429750del	GRCh37
NC_000009.10:g.37419750del	NCBI36
NG_008135.1:g.12044del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.515del MANE Select	ENSP00000313432.6:p.Leu172ArgfsTer?
ENST00000318158.10:c.515del	ENSP00000313432.6:p.Leu172ArgfsTer?
ENST00000377824.8:n.552del
ENST00000460882.5:n.542del
ENST00000480596.5:n.1216del
ENST00000491488.5:n.220del
ENST00000494290.1:c.86del	ENSP00000432021.1:p.Leu29ArgfsTer?
ENST00000497693.1:n.2048del
ENST00000607784.1:c.515del	ENSP00000475569.1:p.Leu172ArgfsTer?
NM_012203.1:c.515del	NP_036335.1:p.Leu172ArgfsTer?
XM_005251631.1:c.194del	XP_005251688.1:p.Leu65ArgfsTer?
XM_011518073.1:c.113del	XP_011516375.1:p.Leu38ArgfsTer?
XR_929374.1:n.960del
XM_017015320.2:c.515del	XP_016870809.1:p.Leu172ArgfsTer?
XM_017015321.2:c.515del	XP_016870810.1:p.Leu172ArgfsTer?
XM_017015323.2:c.113del	XP_016870812.1:p.Leu38ArgfsTer?
XM_024447716.1:c.788del	XP_024303484.1:p.Leu263ArgfsTer?
XM_024447717.1:c.788del	XP_024303485.1:p.Leu263ArgfsTer?
XR_002956828.1:n.803del
XR_002956829.1:n.803del
XR_002956830.1:n.574del
XR_002956831.1:n.249del
XR_002956832.1:n.934del
NM_012203.2:c.515del MANE Select	NP_036335.1:p.Leu172ArgfsTer?