Canonical Allele Identifier: CA2684778685

Gene: IMPDH1

Linked Data

• gnomAD v4: 7-128401055-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128401055_128401056insC , CM000669.2:g.128401055_128401056insC	GRCh38
NC_000007.13:g.128041109_128041110insC , CM000669.1:g.128041109_128041110insC	GRCh37
NC_000007.12:g.127828345_127828346insC	NCBI36
NG_009194.1:g.13927_13928insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.355_356insG	ENSP00000265385.8:p.Met119SerfsTer8
ENST00000484496.6:n.319_320insG
ENST00000338791.11:c.463_464insG MANE Select	ENSP00000345096.6:p.Met155SerfsTer8
ENST00000648462.1:c.110_111insG
ENST00000338791.10:c.463_464insG	ENSP00000345096.6:p.Met155SerfsTer8
ENST00000348127.10:c.355_356insG	ENSP00000265385.8:p.Met119SerfsTer8
ENST00000354269.9:c.433_434insG	ENSP00000346219.5:p.Met145SerfsTer8
ENST00000419067.6:c.364_365insG	ENSP00000399400.2:p.Met122SerfsTer8
ENST00000469328.5:c.209_210insG
ENST00000470772.5:c.208_209insG	ENSP00000417296.1:p.Met70SerfsTer8
ENST00000473463.1:c.*209_*210insG	ENSP00000420469.1:n.*209_*210insG
ENST00000480861.5:c.208_209insG	ENSP00000420185.1:p.Met70SerfsTer8
ENST00000484496.5:c.319_320insG	ENSP00000418742.1:p.Met107SerfsTer8
ENST00000489263.1:c.256_257insG	ENSP00000418592.1:p.Met86SerfsTer8
ENST00000491376.5:n.632_633insG
ENST00000496200.5:c.208_209insG	ENSP00000420803.1:p.Met70SerfsTer8
ENST00000496487.5:n.283_284insG
ENST00000497868.5:c.256_257insG	ENSP00000419609.1:p.Met86SerfsTer8
ENST00000626419.2:c.208_209insG	ENSP00000486056.1:p.Met70SerfsTer8
NM_000883.3:c.463_464insG	NP_000874.2:p.Met155SerfsTer8
NM_001102605.1:c.433_434insG	NP_001096075.1:p.Met145SerfsTer8
NM_001142573.1:c.208_209insG	NP_001136045.1:p.Met70SerfsTer8
NM_001142574.1:c.208_209insG	NP_001136046.1:p.Met70SerfsTer8
NM_001142575.1:c.208_209insG	NP_001136047.1:p.Met70SerfsTer8
NM_001142576.1:c.364_365insG	NP_001136048.1:p.Met122SerfsTer8
NM_001304521.1:c.256_257insG	NP_001291450.1:p.Met86SerfsTer8
NM_183243.2:c.355_356insG	NP_899066.1:p.Met119SerfsTer8
XM_005250314.1:c.232_233insG	XP_005250371.1:p.Met78SerfsTer8
XM_006715967.1:c.463_464insG	XP_006716030.1:p.Met155SerfsTer8
XM_006715968.1:c.433_434insG	XP_006716031.1:p.Met145SerfsTer8
XM_006715969.1:c.355_356insG	XP_006716032.1:p.Met119SerfsTer8
XM_006715970.2:c.256_257insG	XP_006716033.1:p.Met86SerfsTer8
XM_006715971.1:c.232_233insG	XP_006716034.1:p.Met78SerfsTer8
XM_017012172.1:c.232_233insG	XP_016867661.1:p.Met78SerfsTer8
XM_017012173.1:c.433_434insG	XP_016867662.1:p.Met145SerfsTer8
XM_024446755.1:c.433_434insG	XP_024302523.1:p.Met145SerfsTer8
XM_024446756.1:c.355_356insG	XP_024302524.1:p.Met119SerfsTer8
XM_024446757.1:c.256_257insG	XP_024302525.1:p.Met86SerfsTer8
XM_024446758.1:c.232_233insG	XP_024302526.1:p.Met78SerfsTer8
NM_000883.4:c.463_464insG MANE Select	NP_000874.2:p.Met155SerfsTer8
NM_001102605.2:c.433_434insG	NP_001096075.1:p.Met145SerfsTer8
NM_001142573.2:c.208_209insG	NP_001136045.1:p.Met70SerfsTer8
NM_001142574.2:c.208_209insG	NP_001136046.1:p.Met70SerfsTer8
NM_001142575.2:c.208_209insG	NP_001136047.1:p.Met70SerfsTer8
NM_001142576.2:c.364_365insG	NP_001136048.1:p.Met122SerfsTer8
NM_001304521.2:c.256_257insG	NP_001291450.1:p.Met86SerfsTer8
NM_183243.3:c.355_356insG	NP_899066.1:p.Met119SerfsTer8