Canonical Allele Identifier: CA2777839034

Gene: IMPDH1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398537_128398538insA , CM000669.2:g.128398537_128398538insA	GRCh38
NC_000007.13:g.128038591_128038592insA , CM000669.1:g.128038591_128038592insA	GRCh37
NC_000007.12:g.127825827_127825828insA	NCBI36
NG_009194.1:g.16445_16446insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.842_843insT	ENSP00000265385.8:p.Tyr282LeufsTer22
ENST00000484496.6:n.825_826insT
ENST00000338791.11:c.950_951insT MANE Select	ENSP00000345096.6:p.Tyr318LeufsTer22
ENST00000648462.1:c.582_583insT
ENST00000338791.10:c.950_951insT	ENSP00000345096.6:p.Tyr318LeufsTer22
ENST00000348127.10:c.842_843insT	ENSP00000265385.8:p.Tyr282LeufsTer22
ENST00000354269.9:c.920_921insT	ENSP00000346219.5:p.Tyr308LeufsTer22
ENST00000419067.6:c.851_852insT	ENSP00000399400.2:p.Tyr285LeufsTer22
ENST00000468842.1:n.539_540insT
ENST00000469328.5:c.715_716insT
ENST00000470772.5:c.692_693insT	ENSP00000417296.1:p.Tyr232LeufsTer22
ENST00000480861.5:c.680_681insT	ENSP00000420185.1:p.Tyr228LeufsTer22
ENST00000484496.5:c.825_826insT	ENSP00000418742.1:n.825_826insT
ENST00000496200.5:c.620_621insT	ENSP00000420803.1:p.Tyr208LeufsTer22
ENST00000497868.5:c.743_744insT	ENSP00000419609.1:p.Tyr249LeufsTer22
ENST00000626419.2:c.692_693insT	ENSP00000486056.1:p.Tyr232LeufsTer22
NM_000883.3:c.950_951insT	NP_000874.2:p.Tyr318LeufsTer22
NM_001102605.1:c.920_921insT	NP_001096075.1:p.Tyr308LeufsTer22
NM_001142573.1:c.695_696insT	NP_001136045.1:p.Tyr233LeufsTer22
NM_001142574.1:c.680_681insT	NP_001136046.1:p.Tyr228LeufsTer22
NM_001142575.1:c.620_621insT	NP_001136047.1:p.Tyr208LeufsTer22
NM_001142576.1:c.851_852insT	NP_001136048.1:p.Tyr285LeufsTer22
NM_001304521.1:c.743_744insT	NP_001291450.1:p.Tyr249LeufsTer22
NM_183243.2:c.842_843insT	NP_899066.1:p.Tyr282LeufsTer22
XM_005250314.1:c.719_720insT	XP_005250371.1:p.Tyr241LeufsTer22
XM_006715967.1:c.950_951insT	XP_006716030.1:p.Tyr318LeufsTer22
XM_006715968.1:c.920_921insT	XP_006716031.1:p.Tyr308LeufsTer22
XM_006715969.1:c.842_843insT	XP_006716032.1:p.Tyr282LeufsTer22
XM_006715970.2:c.743_744insT	XP_006716033.1:p.Tyr249LeufsTer22
XM_006715971.1:c.719_720insT	XP_006716034.1:p.Tyr241LeufsTer22
XM_011516156.1:c.332_333insT	XP_011514458.1:p.Tyr112LeufsTer22
XM_011516157.1:c.332_333insT	XP_011514459.1:p.Tyr112LeufsTer22
XM_017012172.1:c.719_720insT	XP_016867661.1:p.Tyr241LeufsTer22
XM_017012173.1:c.920_921insT	XP_016867662.1:p.Tyr308LeufsTer22
XM_024446755.1:c.920_921insT	XP_024302523.1:p.Tyr308LeufsTer22
XM_024446756.1:c.842_843insT	XP_024302524.1:p.Tyr282LeufsTer22
XM_024446757.1:c.743_744insT	XP_024302525.1:p.Tyr249LeufsTer22
XM_024446758.1:c.719_720insT	XP_024302526.1:p.Tyr241LeufsTer22
NM_000883.4:c.950_951insT MANE Select	NP_000874.2:p.Tyr318LeufsTer22
NM_001102605.2:c.920_921insT	NP_001096075.1:p.Tyr308LeufsTer22
NM_001142573.2:c.695_696insT	NP_001136045.1:p.Tyr233LeufsTer22
NM_001142574.2:c.680_681insT	NP_001136046.1:p.Tyr228LeufsTer22
NM_001142575.2:c.620_621insT	NP_001136047.1:p.Tyr208LeufsTer22
NM_001142576.2:c.851_852insT	NP_001136048.1:p.Tyr285LeufsTer22
NM_001304521.2:c.743_744insT	NP_001291450.1:p.Tyr249LeufsTer22
NM_183243.3:c.842_843insT	NP_899066.1:p.Tyr282LeufsTer22