Canonical Allele Identifier: CA2684777702

Gene: IMPDH1

Linked Data

• dbSNP Id: rs2116641415
• gnomAD v4: 7-128398660-AGTTTGGGAGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398665_128398675del , CM000669.2:g.128398665_128398675del	GRCh38
NC_000007.13:g.128038719_128038729del , CM000669.1:g.128038719_128038729del	GRCh37
NC_000007.12:g.127825955_127825965del	NCBI36
NG_009194.1:g.16312_16322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.767-58_767-48del	ENSP00000265385.8:n.767-58_767-48del
ENST00000484496.6:n.750-58_750-48del
ENST00000338791.11:c.875-58_875-48del MANE Select	ENSP00000345096.6:n.875-58_875-48del
ENST00000648462.1:c.507-58_507-48del
ENST00000338791.10:c.875-58_875-48del	ENSP00000345096.6:n.875-58_875-48del
ENST00000348127.10:c.767-58_767-48del	ENSP00000265385.8:n.767-58_767-48del
ENST00000354269.9:c.845-58_845-48del	ENSP00000346219.5:n.845-58_845-48del
ENST00000419067.6:c.776-58_776-48del	ENSP00000399400.2:n.776-58_776-48del
ENST00000468842.1:n.464-58_464-48del
ENST00000469328.5:c.640-58_640-48del
ENST00000470772.5:c.617-58_617-48del	ENSP00000417296.1:n.617-58_617-48del
ENST00000480861.5:c.605-58_605-48del	ENSP00000420185.1:n.605-58_605-48del
ENST00000484496.5:c.750-58_750-48del	ENSP00000418742.1:n.750-58_750-48del
ENST00000496200.5:c.545-58_545-48del	ENSP00000420803.1:n.545-58_545-48del
ENST00000497868.5:c.668-58_668-48del	ENSP00000419609.1:n.668-58_668-48del
ENST00000626419.2:c.617-58_617-48del	ENSP00000486056.1:n.617-58_617-48del
NM_000883.3:c.875-58_875-48del	NP_000874.2:n.875-58_875-48del
NM_001102605.1:c.845-58_845-48del	NP_001096075.1:n.845-58_845-48del
NM_001142573.1:c.620-58_620-48del	NP_001136045.1:n.620-58_620-48del
NM_001142574.1:c.605-58_605-48del	NP_001136046.1:n.605-58_605-48del
NM_001142575.1:c.545-58_545-48del	NP_001136047.1:n.545-58_545-48del
NM_001142576.1:c.776-58_776-48del	NP_001136048.1:n.776-58_776-48del
NM_001304521.1:c.668-58_668-48del	NP_001291450.1:n.668-58_668-48del
NM_183243.2:c.767-58_767-48del	NP_899066.1:n.767-58_767-48del
XM_005250314.1:c.644-58_644-48del	XP_005250371.1:n.644-58_644-48del
XM_006715967.1:c.875-58_875-48del	XP_006716030.1:n.875-58_875-48del
XM_006715968.1:c.845-58_845-48del	XP_006716031.1:n.845-58_845-48del
XM_006715969.1:c.767-58_767-48del	XP_006716032.1:n.767-58_767-48del
XM_006715970.2:c.668-58_668-48del	XP_006716033.1:n.668-58_668-48del
XM_006715971.1:c.644-58_644-48del	XP_006716034.1:n.644-58_644-48del
XM_011516156.1:c.257-58_257-48del	XP_011514458.1:n.257-58_257-48del
XM_011516157.1:c.257-58_257-48del	XP_011514459.1:n.257-58_257-48del
XM_017012172.1:c.644-58_644-48del	XP_016867661.1:n.644-58_644-48del
XM_017012173.1:c.845-58_845-48del	XP_016867662.1:n.845-58_845-48del
XM_024446755.1:c.845-58_845-48del	XP_024302523.1:n.845-58_845-48del
XM_024446756.1:c.767-58_767-48del	XP_024302524.1:n.767-58_767-48del
XM_024446757.1:c.668-58_668-48del	XP_024302525.1:n.668-58_668-48del
XM_024446758.1:c.644-58_644-48del	XP_024302526.1:n.644-58_644-48del
NM_000883.4:c.875-58_875-48del MANE Select	NP_000874.2:n.875-58_875-48del
NM_001102605.2:c.845-58_845-48del	NP_001096075.1:n.845-58_845-48del
NM_001142573.2:c.620-58_620-48del	NP_001136045.1:n.620-58_620-48del
NM_001142574.2:c.605-58_605-48del	NP_001136046.1:n.605-58_605-48del
NM_001142575.2:c.545-58_545-48del	NP_001136047.1:n.545-58_545-48del
NM_001142576.2:c.776-58_776-48del	NP_001136048.1:n.776-58_776-48del
NM_001304521.2:c.668-58_668-48del	NP_001291450.1:n.668-58_668-48del
NM_183243.3:c.767-58_767-48del	NP_899066.1:n.767-58_767-48del