Canonical Allele Identifier: CA1123326610

Gene: GRHPR

Linked Data

• dbSNP Id: rs1823212073
• gnomAD v3: 9-37428799-TA-T
• gnomAD v4: 9-37428799-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428801del , CM000671.2:g.37428801del	GRCh38
NC_000009.11:g.37428798del , CM000671.1:g.37428798del	GRCh37
NC_000009.10:g.37418798del	NCBI36
NG_008135.1:g.11092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.493+229del MANE Select	ENSP00000313432.6:n.493+229del
ENST00000318158.10:c.493+229del	ENSP00000313432.6:n.493+229del
ENST00000377824.8:n.530+229del
ENST00000460882.5:n.520+229del
ENST00000480596.5:n.264del
ENST00000491488.5:n.198+229del
ENST00000493368.5:n.779del
ENST00000497693.1:n.1096del
ENST00000607784.1:c.493+229del	ENSP00000475569.1:n.493+229del
NM_012203.1:c.493+229del	NP_036335.1:n.493+229del
XM_005251631.1:c.172+229del	XP_005251688.1:n.172+229del
XM_011518073.1:c.-41del	XP_011516375.1:n.-41del
XR_929374.1:n.807del
XM_017015320.2:c.493+229del	XP_016870809.1:n.493+229del
XM_017015321.2:c.493+229del	XP_016870810.1:n.493+229del
XM_017015323.2:c.-41del	XP_016870812.1:n.-41del
XM_024447716.1:c.766+229del	XP_024303484.1:n.766+229del
XM_024447717.1:c.766+229del	XP_024303485.1:n.766+229del
XR_002956828.1:n.781+229del
XR_002956829.1:n.781+229del
XR_002956830.1:n.552+229del
XR_002956831.1:n.227+229del
XR_002956832.1:n.781del
NM_012203.2:c.493+229del MANE Select	NP_036335.1:n.493+229del