Canonical Allele Identifier: CA2579340666

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37428561-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428565del , CM000671.2:g.37428565del	GRCh38
NC_000009.11:g.37428562del , CM000671.1:g.37428562del	GRCh37
NC_000009.10:g.37418562del	NCBI36
NG_008135.1:g.10856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.486del MANE Select	ENSP00000313432.6:p.Arg163AlafsTer2
ENST00000318158.10:c.486del	ENSP00000313432.6:p.Arg163AlafsTer2
ENST00000377824.8:n.523del
ENST00000460882.5:n.513del
ENST00000480596.5:n.28del
ENST00000491488.5:n.191del
ENST00000493368.5:n.543del
ENST00000497693.1:n.860del
ENST00000607784.1:c.486del	ENSP00000475569.1:p.Arg163AlafsTer2
NM_012203.1:c.486del	NP_036335.1:p.Arg163AlafsTer2
XM_005251631.1:c.165del	XP_005251688.1:p.Arg56AlafsTer2
XM_011518073.1:c.-277del	XP_011516375.1:n.-277del
XR_929374.1:n.571del
XM_017015320.2:c.486del	XP_016870809.1:p.Arg163AlafsTer2
XM_017015321.2:c.486del	XP_016870810.1:p.Arg163AlafsTer2
XM_017015323.2:c.-277del	XP_016870812.1:n.-277del
XM_024447716.1:c.759del	XP_024303484.1:p.Arg254AlafsTer2
XM_024447717.1:c.759del	XP_024303485.1:p.Arg254AlafsTer2
XR_002956828.1:n.774del
XR_002956829.1:n.774del
XR_002956830.1:n.545del
XR_002956831.1:n.220del
XR_002956832.1:n.545del
NM_012203.2:c.486del MANE Select	NP_036335.1:p.Arg163AlafsTer2