Canonical Allele Identifier: CA2689952666

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37425020-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37425023del , CM000671.2:g.37425023del	GRCh38
NC_000009.11:g.37425020del , CM000671.1:g.37425020del	GRCh37
NC_000009.10:g.37415020del	NCBI36
NG_008135.1:g.7314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.214+48del MANE Select	ENSP00000313432.6:n.214+48del
ENST00000318158.10:c.214+48del	ENSP00000313432.6:n.214+48del
ENST00000377824.8:n.251+48del
ENST00000460882.5:n.241+48del
ENST00000487399.5:n.223+48del
ENST00000491488.5:n.109+2190del
ENST00000493368.5:n.271+48del
ENST00000607784.1:c.214+48del	ENSP00000475569.1:n.214+48del
NM_012203.1:c.214+48del	NP_036335.1:n.214+48del
XM_005251631.1:c.83+2190del	XP_005251688.1:n.83+2190del
XM_011518073.1:c.-549+48del	XP_011516375.1:n.-549+48del
XR_929374.1:n.299+48del
XM_017015320.2:c.214+48del	XP_016870809.1:n.214+48del
XM_017015321.2:c.214+48del	XP_016870810.1:n.214+48del
XM_017015323.2:c.-549+48del	XP_016870812.1:n.-549+48del
XM_024447716.1:c.487+48del	XP_024303484.1:n.487+48del
XM_024447717.1:c.487+48del	XP_024303485.1:n.487+48del
XR_002956828.1:n.502+48del
XR_002956829.1:n.502+48del
XR_002956830.1:n.273+48del
XR_002956831.1:n.138+2190del
XR_002956832.1:n.273+48del
NM_012203.2:c.214+48del MANE Select	NP_036335.1:n.214+48del