Canonical Allele Identifier: CA1846870566

Gene: GRHPR

Linked Data

• dbSNP Id: rs1823272072

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429800_37429801del , CM000671.2:g.37429800_37429801del	GRCh38
NC_000009.11:g.37429797_37429798del , CM000671.1:g.37429797_37429798del	GRCh37
NC_000009.10:g.37419797_37419798del	NCBI36
NG_008135.1:g.12091_12092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.562_563del MANE Select	ENSP00000313432.6:p.Arg188AlafsTer2
ENST00000318158.10:c.562_563del	ENSP00000313432.6:p.Arg188AlafsTer2
ENST00000377824.8:n.599_600del
ENST00000460882.5:n.589_590del
ENST00000480596.5:n.1263_1264del
ENST00000482603.1:n.15_16del
ENST00000491488.5:n.267_268del
ENST00000494290.1:c.133_134del	ENSP00000432021.1:p.Arg45AlafsTer2
ENST00000497693.1:n.2095_2096del
ENST00000607784.1:c.562_563del	ENSP00000475569.1:p.Arg188AlafsTer2
NM_012203.1:c.562_563del	NP_036335.1:p.Arg188AlafsTer2
XM_005251631.1:c.241_242del	XP_005251688.1:p.Arg81AlafsTer2
XM_011518073.1:c.160_161del	XP_011516375.1:p.Arg54AlafsTer2
XR_929374.1:n.1007_1008del
XM_017015320.2:c.562_563del	XP_016870809.1:p.Arg188AlafsTer2
XM_017015321.2:c.562_563del	XP_016870810.1:p.Arg188AlafsTer2
XM_017015323.2:c.160_161del	XP_016870812.1:p.Arg54AlafsTer2
XM_024447716.1:c.835_836del	XP_024303484.1:p.Arg279AlafsTer2
XM_024447717.1:c.835_836del	XP_024303485.1:p.Arg279AlafsTer2
XR_002956828.1:n.850_851del
XR_002956829.1:n.850_851del
XR_002956830.1:n.621_622del
XR_002956831.1:n.296_297del
XR_002956832.1:n.981_982del
NM_012203.2:c.562_563del MANE Select	NP_036335.1:p.Arg188AlafsTer2