Canonical Allele Identifier: CA2684777528

Gene: IMPDH1

Linked Data

• gnomAD v4: 7-128398475-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398478del , CM000669.2:g.128398478del	GRCh38
NC_000007.13:g.128038532del , CM000669.1:g.128038532del	GRCh37
NC_000007.12:g.127825768del	NCBI36
NG_009194.1:g.16507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.904del	ENSP00000265385.8:p.Arg302ValfsTer19
ENST00000484496.6:n.887del
ENST00000338791.11:c.1012del MANE Select	ENSP00000345096.6:p.Arg338ValfsTer19
ENST00000648462.1:c.644del
ENST00000338791.10:c.1012del	ENSP00000345096.6:p.Arg338ValfsTer19
ENST00000348127.10:c.904del	ENSP00000265385.8:p.Arg302ValfsTer19
ENST00000354269.9:c.982del	ENSP00000346219.5:p.Arg328ValfsTer19
ENST00000419067.6:c.913del	ENSP00000399400.2:p.Arg305ValfsTer19
ENST00000469328.5:c.777del
ENST00000470772.5:c.754del	ENSP00000417296.1:p.Arg252ValfsTer19
ENST00000480861.5:c.742del	ENSP00000420185.1:p.Arg248ValfsTer19
ENST00000484496.5:c.887del	ENSP00000418742.1:n.887del
ENST00000496200.5:c.682del	ENSP00000420803.1:p.Arg228ValfsTer19
ENST00000497868.5:c.805del	ENSP00000419609.1:p.Arg269ValfsTer19
ENST00000626419.2:c.754del	ENSP00000486056.1:p.Arg252ValfsTer19
NM_000883.3:c.1012del	NP_000874.2:p.Arg338ValfsTer19
NM_001102605.1:c.982del	NP_001096075.1:p.Arg328ValfsTer19
NM_001142573.1:c.757del	NP_001136045.1:p.Arg253ValfsTer19
NM_001142574.1:c.742del	NP_001136046.1:p.Arg248ValfsTer19
NM_001142575.1:c.682del	NP_001136047.1:p.Arg228ValfsTer19
NM_001142576.1:c.913del	NP_001136048.1:p.Arg305ValfsTer19
NM_001304521.1:c.805del	NP_001291450.1:p.Arg269ValfsTer19
NM_183243.2:c.904del	NP_899066.1:p.Arg302ValfsTer19
XM_005250314.1:c.781del	XP_005250371.1:p.Arg261ValfsTer19
XM_006715967.1:c.1012del	XP_006716030.1:p.Arg338ValfsTer19
XM_006715968.1:c.982del	XP_006716031.1:p.Arg328ValfsTer19
XM_006715969.1:c.904del	XP_006716032.1:p.Arg302ValfsTer19
XM_006715970.2:c.805del	XP_006716033.1:p.Arg269ValfsTer19
XM_006715971.1:c.781del	XP_006716034.1:p.Arg261ValfsTer19
XM_011516156.1:c.394del	XP_011514458.1:p.Arg132ValfsTer19
XM_011516157.1:c.394del	XP_011514459.1:p.Arg132ValfsTer19
XM_017012172.1:c.781del	XP_016867661.1:p.Arg261ValfsTer19
XM_017012173.1:c.982del	XP_016867662.1:p.Arg328ValfsTer19
XM_024446755.1:c.982del	XP_024302523.1:p.Arg328ValfsTer19
XM_024446756.1:c.904del	XP_024302524.1:p.Arg302ValfsTer19
XM_024446757.1:c.805del	XP_024302525.1:p.Arg269ValfsTer19
XM_024446758.1:c.781del	XP_024302526.1:p.Arg261ValfsTer19
NM_000883.4:c.1012del MANE Select	NP_000874.2:p.Arg338ValfsTer19
NM_001102605.2:c.982del	NP_001096075.1:p.Arg328ValfsTer19
NM_001142573.2:c.757del	NP_001136045.1:p.Arg253ValfsTer19
NM_001142574.2:c.742del	NP_001136046.1:p.Arg248ValfsTer19
NM_001142575.2:c.682del	NP_001136047.1:p.Arg228ValfsTer19
NM_001142576.2:c.913del	NP_001136048.1:p.Arg305ValfsTer19
NM_001304521.2:c.805del	NP_001291450.1:p.Arg269ValfsTer19
NM_183243.3:c.904del	NP_899066.1:p.Arg302ValfsTer19