Canonical Allele Identifier: CA5058915

Gene: GRHPR

Linked Data

• dbSNP Id: rs765619632
• ExAC: 9:37424814 TCTC / T
• gnomAD v2: 9-37424814-TCTC-T
• gnomAD v3: 9-37424817-TCTC-T
• gnomAD v4: 9-37424817-TCTC-T
• MyVariant Identifiers: chr9:g.37424815_37424817del (hg19) ; chr9:g.37424818_37424820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424820_37424822del , CM000671.2:g.37424820_37424822del	GRCh38
NC_000009.11:g.37424817_37424819del , CM000671.1:g.37424817_37424819del	GRCh37
NC_000009.10:g.37414817_37414819del	NCBI36
NG_008135.1:g.7111_7113del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.84-25_84-23del MANE Select	ENSP00000313432.6:n.84-25_84-23del
ENST00000318158.10:c.84-25_84-23del	ENSP00000313432.6:n.84-25_84-23del
ENST00000377824.8:n.121-25_121-23del
ENST00000460882.5:n.111-25_111-23del
ENST00000487399.5:n.93-25_93-23del
ENST00000491488.5:n.109+1987_109+1989del
ENST00000493368.5:n.141-25_141-23del
ENST00000607784.1:c.84-25_84-23del	ENSP00000475569.1:n.84-25_84-23del
NM_012203.1:c.84-25_84-23del	NP_036335.1:n.84-25_84-23del
XM_005251631.1:c.83+1987_83+1989del	XP_005251688.1:n.83+1987_83+1989del
XM_011518073.1:c.-679-25_-679-23del	XP_011516375.1:n.-679-25_-679-23del
XR_929374.1:n.169-25_169-23del
XM_017015320.2:c.84-25_84-23del	XP_016870809.1:n.84-25_84-23del
XM_017015321.2:c.84-25_84-23del	XP_016870810.1:n.84-25_84-23del
XM_017015323.2:c.-679-25_-679-23del	XP_016870812.1:n.-679-25_-679-23del
XM_024447716.1:c.357-25_357-23del	XP_024303484.1:n.357-25_357-23del
XM_024447717.1:c.357-25_357-23del	XP_024303485.1:n.357-25_357-23del
XR_002956828.1:n.372-25_372-23del
XR_002956829.1:n.372-25_372-23del
XR_002956830.1:n.143-25_143-23del
XR_002956831.1:n.138+1987_138+1989del
XR_002956832.1:n.143-25_143-23del
NM_012203.2:c.84-25_84-23del MANE Select	NP_036335.1:n.84-25_84-23del