Canonical Allele Identifier: CA2689984604

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37436700-G-GCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436703_37436705dup , CM000671.2:g.37436703_37436705dup	GRCh38
NC_000009.11:g.37436700_37436702dup , CM000671.1:g.37436700_37436702dup	GRCh37
NC_000009.10:g.37426700_37426702dup	NCBI36
NG_008135.1:g.18994_18996dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.908_910dup MANE Select	ENSP00000313432.6:p.Asn303_Thr304insAsn
ENST00000318158.10:c.908_910dup	ENSP00000313432.6:p.Asn303_Thr304insAsn
ENST00000460882.5:n.935_937dup
ENST00000480596.5:n.1609_1611dup
ENST00000494290.1:c.*52-178_*52-176dup	ENSP00000432021.1:n.*52-178_*52-176dup
ENST00000497693.1:n.4476_4478dup
NM_012203.1:c.908_910dup	NP_036335.1:p.Asn303_Thr304insAsn
XM_005251631.1:c.587_589dup	XP_005251688.1:p.Asn196_Thr197insAsn
XM_011518073.1:c.506_508dup	XP_011516375.1:p.Asn169_Thr170insAsn
XM_017015320.2:c.946-708_946-706dup	XP_016870809.1:n.946-708_946-706dup
XM_017015321.2:c.866-708_866-706dup	XP_016870810.1:n.866-708_866-706dup
XM_017015323.2:c.544-708_544-706dup	XP_016870812.1:n.544-708_544-706dup
XM_024447716.1:c.1219-708_1219-706dup	XP_024303484.1:n.1219-708_1219-706dup
XM_024447717.1:c.1139-708_1139-706dup	XP_024303485.1:n.1139-708_1139-706dup
XR_002956828.1:n.1234-708_1234-706dup
XR_002956829.1:n.1154-708_1154-706dup
XR_002956830.1:n.2328_2330dup
XR_002956831.1:n.2003_2005dup
XR_002956832.1:n.1327_1329dup
NM_012203.2:c.908_910dup MANE Select	NP_036335.1:p.Asn303_Thr304insAsn