Canonical Allele Identifier: CA2579011849

Gene: IMPDH1

Linked Data

• gnomAD v4: 7-128400732-TGCAGGGCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128400739_128400747del , CM000669.2:g.128400739_128400747del	GRCh38
NC_000007.13:g.128040793_128040801del , CM000669.1:g.128040793_128040801del	GRCh37
NC_000007.12:g.127828029_127828037del	NCBI36
NG_009194.1:g.14242_14250del

Transcript Alleles

HGVS	Amino-acid change
ENST00000348127.11:c.471+76_471+84del	ENSP00000265385.8:n.471+76_471+84del
ENST00000484496.6:n.435+76_435+84del
ENST00000338791.11:c.579+76_579+84del MANE Select	ENSP00000345096.6:n.579+76_579+84del
ENST00000648462.1:c.211+91_211+99del
ENST00000338791.10:c.579+76_579+84del	ENSP00000345096.6:n.579+76_579+84del
ENST00000348127.10:c.471+76_471+84del	ENSP00000265385.8:n.471+76_471+84del
ENST00000354269.9:c.549+76_549+84del	ENSP00000346219.5:n.549+76_549+84del
ENST00000419067.6:c.480+76_480+84del	ENSP00000399400.2:n.480+76_480+84del
ENST00000469328.5:c.325+76_325+84del
ENST00000470772.5:c.324+76_324+84del	ENSP00000417296.1:n.324+76_324+84del
ENST00000480861.5:c.309+91_309+99del	ENSP00000420185.1:n.309+91_309+99del
ENST00000484496.5:c.435+76_435+84del	ENSP00000418742.1:n.435+76_435+84del
ENST00000489263.1:c.298-202_298-194del	ENSP00000418592.1:n.298-202_298-194del
ENST00000496200.5:c.250-202_250-194del	ENSP00000420803.1:n.250-202_250-194del
ENST00000496487.5:n.475_483del
ENST00000497868.5:c.372+76_372+84del	ENSP00000419609.1:n.372+76_372+84del
ENST00000626419.2:c.324+76_324+84del	ENSP00000486056.1:n.324+76_324+84del
NM_000883.3:c.579+76_579+84del	NP_000874.2:n.579+76_579+84del
NM_001102605.1:c.549+76_549+84del	NP_001096075.1:n.549+76_549+84del
NM_001142573.1:c.324+76_324+84del	NP_001136045.1:n.324+76_324+84del
NM_001142574.1:c.309+91_309+99del	NP_001136046.1:n.309+91_309+99del
NM_001142575.1:c.250-202_250-194del	NP_001136047.1:n.250-202_250-194del
NM_001142576.1:c.480+76_480+84del	NP_001136048.1:n.480+76_480+84del
NM_001304521.1:c.372+76_372+84del	NP_001291450.1:n.372+76_372+84del
NM_183243.2:c.471+76_471+84del	NP_899066.1:n.471+76_471+84del
XM_005250314.1:c.348+76_348+84del	XP_005250371.1:n.348+76_348+84del
XM_006715967.1:c.579+76_579+84del	XP_006716030.1:n.579+76_579+84del
XM_006715968.1:c.549+76_549+84del	XP_006716031.1:n.549+76_549+84del
XM_006715969.1:c.471+76_471+84del	XP_006716032.1:n.471+76_471+84del
XM_006715970.2:c.372+76_372+84del	XP_006716033.1:n.372+76_372+84del
XM_006715971.1:c.348+76_348+84del	XP_006716034.1:n.348+76_348+84del
XM_017012172.1:c.348+76_348+84del	XP_016867661.1:n.348+76_348+84del
XM_017012173.1:c.549+76_549+84del	XP_016867662.1:n.549+76_549+84del
XM_024446755.1:c.549+76_549+84del	XP_024302523.1:n.549+76_549+84del
XM_024446756.1:c.471+76_471+84del	XP_024302524.1:n.471+76_471+84del
XM_024446757.1:c.372+76_372+84del	XP_024302525.1:n.372+76_372+84del
XM_024446758.1:c.348+76_348+84del	XP_024302526.1:n.348+76_348+84del
NM_000883.4:c.579+76_579+84del MANE Select	NP_000874.2:n.579+76_579+84del
NM_001102605.2:c.549+76_549+84del	NP_001096075.1:n.549+76_549+84del
NM_001142573.2:c.324+76_324+84del	NP_001136045.1:n.324+76_324+84del
NM_001142574.2:c.309+91_309+99del	NP_001136046.1:n.309+91_309+99del
NM_001142575.2:c.250-202_250-194del	NP_001136047.1:n.250-202_250-194del
NM_001142576.2:c.480+76_480+84del	NP_001136048.1:n.480+76_480+84del
NM_001304521.2:c.372+76_372+84del	NP_001291450.1:n.372+76_372+84del
NM_183243.3:c.471+76_471+84del	NP_899066.1:n.471+76_471+84del