Canonical Allele Identifier: CA2689954586

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37428522-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428523del , CM000671.2:g.37428523del	GRCh38
NC_000009.11:g.37428520del , CM000671.1:g.37428520del	GRCh37
NC_000009.10:g.37418520del	NCBI36
NG_008135.1:g.10814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.444del MANE Select	ENSP00000313432.6:p.Tyr149MetfsTer16
ENST00000318158.10:c.444del	ENSP00000313432.6:p.Tyr149MetfsTer16
ENST00000377824.8:n.481del
ENST00000460882.5:n.471del
ENST00000491488.5:n.149del
ENST00000493368.5:n.501del
ENST00000497693.1:n.818del
ENST00000607784.1:c.444del	ENSP00000475569.1:p.Tyr149MetfsTer16
NM_012203.1:c.444del	NP_036335.1:p.Tyr149MetfsTer16
XM_005251631.1:c.123del	XP_005251688.1:p.Tyr42MetfsTer16
XM_011518073.1:c.-319del	XP_011516375.1:n.-319del
XR_929374.1:n.529del
XM_017015320.2:c.444del	XP_016870809.1:p.Tyr149MetfsTer16
XM_017015321.2:c.444del	XP_016870810.1:p.Tyr149MetfsTer16
XM_017015323.2:c.-319del	XP_016870812.1:n.-319del
XM_024447716.1:c.717del	XP_024303484.1:p.Tyr240MetfsTer16
XM_024447717.1:c.717del	XP_024303485.1:p.Tyr240MetfsTer16
XR_002956828.1:n.732del
XR_002956829.1:n.732del
XR_002956830.1:n.503del
XR_002956831.1:n.178del
XR_002956832.1:n.503del
NM_012203.2:c.444del MANE Select	NP_036335.1:p.Tyr149MetfsTer16