Canonical Allele Identifier: CA2579340665

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428526del , CM000671.2:g.37428526del	GRCh38
NC_000009.11:g.37428523del , CM000671.1:g.37428523del	GRCh37
NC_000009.10:g.37418523del	NCBI36
NG_008135.1:g.10817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.447del MANE Select	ENSP00000313432.6:p.Tyr149Ter
ENST00000318158.10:c.447del	ENSP00000313432.6:p.Tyr149Ter
ENST00000377824.8:n.484del
ENST00000460882.5:n.474del
ENST00000491488.5:n.152del
ENST00000493368.5:n.504del
ENST00000497693.1:n.821del
ENST00000607784.1:c.447del	ENSP00000475569.1:p.Tyr149Ter
NM_012203.1:c.447del	NP_036335.1:p.Tyr149Ter
XM_005251631.1:c.126del	XP_005251688.1:p.Tyr42Ter
XM_011518073.1:c.-316del	XP_011516375.1:n.-316del
XR_929374.1:n.532del
XM_017015320.2:c.447del	XP_016870809.1:p.Tyr149Ter
XM_017015321.2:c.447del	XP_016870810.1:p.Tyr149Ter
XM_017015323.2:c.-316del	XP_016870812.1:n.-316del
XM_024447716.1:c.720del	XP_024303484.1:p.Tyr240Ter
XM_024447717.1:c.720del	XP_024303485.1:p.Tyr240Ter
XR_002956828.1:n.735del
XR_002956829.1:n.735del
XR_002956830.1:n.506del
XR_002956831.1:n.181del
XR_002956832.1:n.506del
NM_012203.2:c.447del MANE Select	NP_036335.1:p.Tyr149Ter