Canonical Allele Identifier: CA4471153

Gene: IMPDH1

Linked Data

• dbSNP Id: rs748386638
• ExAC: 7:128041115 GA / G
• gnomAD v2: 7-128041115-GA-G
• gnomAD v4: 7-128401061-GA-G
• MyVariant Identifiers: chr7:g.128041116del (hg19) ; chr7:g.128401062del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128401062del , CM000669.2:g.128401062del	GRCh38
NC_000007.13:g.128041116del , CM000669.1:g.128041116del	GRCh37
NC_000007.12:g.127828352del	NCBI36
NG_009194.1:g.13921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.349del	ENSP00000265385.8:p.Ser117ProfsTer6
ENST00000484496.6:n.313del
ENST00000338791.11:c.457del MANE Select	ENSP00000345096.6:p.Ser153ProfsTer6
ENST00000648462.1:c.104del
ENST00000338791.10:c.457del	ENSP00000345096.6:p.Ser153ProfsTer6
ENST00000348127.10:c.349del	ENSP00000265385.8:p.Ser117ProfsTer6
ENST00000354269.9:c.427del	ENSP00000346219.5:p.Ser143ProfsTer6
ENST00000419067.6:c.358del	ENSP00000399400.2:p.Ser120ProfsTer6
ENST00000469328.5:c.203del
ENST00000470772.5:c.202del	ENSP00000417296.1:p.Ser68ProfsTer6
ENST00000473463.1:c.*203del	ENSP00000420469.1:n.*203del
ENST00000480861.5:c.202del	ENSP00000420185.1:p.Ser68ProfsTer6
ENST00000484496.5:c.313del	ENSP00000418742.1:p.Ser105ProfsTer6
ENST00000489263.1:c.250del	ENSP00000418592.1:p.Ser84ProfsTer6
ENST00000491376.5:n.626del
ENST00000496200.5:c.202del	ENSP00000420803.1:p.Ser68ProfsTer6
ENST00000496487.5:n.277del
ENST00000497868.5:c.250del	ENSP00000419609.1:p.Ser84ProfsTer6
ENST00000626419.2:c.202del	ENSP00000486056.1:p.Ser68ProfsTer6
NM_000883.3:c.457del	NP_000874.2:p.Ser153ProfsTer6
NM_001102605.1:c.427del	NP_001096075.1:p.Ser143ProfsTer6
NM_001142573.1:c.202del	NP_001136045.1:p.Ser68ProfsTer6
NM_001142574.1:c.202del	NP_001136046.1:p.Ser68ProfsTer6
NM_001142575.1:c.202del	NP_001136047.1:p.Ser68ProfsTer6
NM_001142576.1:c.358del	NP_001136048.1:p.Ser120ProfsTer6
NM_001304521.1:c.250del	NP_001291450.1:p.Ser84ProfsTer6
NM_183243.2:c.349del	NP_899066.1:p.Ser117ProfsTer6
XM_005250314.1:c.226del	XP_005250371.1:p.Ser76ProfsTer6
XM_006715967.1:c.457del	XP_006716030.1:p.Ser153ProfsTer6
XM_006715968.1:c.427del	XP_006716031.1:p.Ser143ProfsTer6
XM_006715969.1:c.349del	XP_006716032.1:p.Ser117ProfsTer6
XM_006715970.2:c.250del	XP_006716033.1:p.Ser84ProfsTer6
XM_006715971.1:c.226del	XP_006716034.1:p.Ser76ProfsTer6
XM_017012172.1:c.226del	XP_016867661.1:p.Ser76ProfsTer6
XM_017012173.1:c.427del	XP_016867662.1:p.Ser143ProfsTer6
XM_024446755.1:c.427del	XP_024302523.1:p.Ser143ProfsTer6
XM_024446756.1:c.349del	XP_024302524.1:p.Ser117ProfsTer6
XM_024446757.1:c.250del	XP_024302525.1:p.Ser84ProfsTer6
XM_024446758.1:c.226del	XP_024302526.1:p.Ser76ProfsTer6
NM_000883.4:c.457del MANE Select	NP_000874.2:p.Ser153ProfsTer6
NM_001102605.2:c.427del	NP_001096075.1:p.Ser143ProfsTer6
NM_001142573.2:c.202del	NP_001136045.1:p.Ser68ProfsTer6
NM_001142574.2:c.202del	NP_001136046.1:p.Ser68ProfsTer6
NM_001142575.2:c.202del	NP_001136047.1:p.Ser68ProfsTer6
NM_001142576.2:c.358del	NP_001136048.1:p.Ser120ProfsTer6
NM_001304521.2:c.250del	NP_001291450.1:p.Ser84ProfsTer6
NM_183243.3:c.349del	NP_899066.1:p.Ser117ProfsTer6