Canonical Allele Identifier: CA578149345

Gene: IMPDH1

Linked Data

• dbSNP Id: rs1563006630
• gnomAD v2: 7-128049883-G-GCGGGGCT
• gnomAD v4: 7-128409829-G-GCGGGGCT
• MyVariant Identifiers: chr7:g.128049883_128049884insCGGGGCT (hg19) ; chr7:g.128409829_128409830insCGGGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128409830_128409831insGGGGCTC , CM000669.2:g.128409830_128409831insGGGGCTC	GRCh38
NC_000007.13:g.128049884_128049885insGGGGCTC , CM000669.1:g.128049884_128049885insGGGGCTC	GRCh37
NC_000007.12:g.127837120_127837121insGGGGCTC	NCBI36
NG_009194.1:g.5153_5154insAGCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.72_73insAGCCCCG	ENSP00000265385.8:p.Gln25SerfsTer?
ENST00000338791.11:c.72_73insAGCCCCG MANE Select	ENSP00000345096.6:p.Gln25SerfsTer29
ENST00000338791.10:c.72_73insAGCCCCG	ENSP00000345096.6:p.Gln25SerfsTer29
ENST00000348127.10:c.72_73insAGCCCCG	ENSP00000265385.8:p.Gln25SerfsTer?
ENST00000354269.9:c.72_73insAGCCCCG	ENSP00000346219.5:p.Gln25SerfsTer?
ENST00000419067.6:c.72_73insAGCCCCG	ENSP00000399400.2:p.Gln25SerfsTer29
ENST00000473463.1:c.72_73insAGCCCCG	ENSP00000420469.1:p.Gln25SerfsTer?
ENST00000489263.1:c.72_73insAGCCCCG	ENSP00000418592.1:p.Gln25SerfsTer?
ENST00000491376.5:n.153_154insAGCCCCG
ENST00000497868.5:c.72_73insAGCCCCG	ENSP00000419609.1:p.Gln25SerfsTer?
ENST00000626419.2:c.-184_-183insAGCCCCG	ENSP00000486056.1:n.-184_-183insAGCCCCG
NM_000883.3:c.72_73insAGCCCCG	NP_000874.2:p.Gln25SerfsTer29
NM_001102605.1:c.72_73insAGCCCCG	NP_001096075.1:p.Gln25SerfsTer?
NM_001142576.1:c.72_73insAGCCCCG	NP_001136048.1:p.Gln25SerfsTer29
NM_001304521.1:c.72_73insAGCCCCG	NP_001291450.1:p.Gln25SerfsTer?
NM_183243.2:c.72_73insAGCCCCG	NP_899066.1:p.Gln25SerfsTer?
XM_005250314.1:c.-116_-115insAGCCCCG	XP_005250371.1:n.-116_-115insAGCCCCG
XM_006715967.1:c.72_73insAGCCCCG	XP_006716030.1:p.Gln25SerfsTer29
XM_006715968.1:c.72_73insAGCCCCG	XP_006716031.1:p.Gln25SerfsTer?
XM_006715969.1:c.72_73insAGCCCCG	XP_006716032.1:p.Gln25SerfsTer?
XM_006715970.2:c.72_73insAGCCCCG	XP_006716033.1:p.Gln25SerfsTer?
XM_006715971.1:c.-116_-115insAGCCCCG	XP_006716034.1:n.-116_-115insAGCCCCG
XM_017012172.1:c.-248_-247insAGCCCCG	XP_016867661.1:n.-248_-247insAGCCCCG
XM_017012173.1:c.72_73insAGCCCCG	XP_016867662.1:p.Gln25SerfsTer?
XM_024446755.1:c.72_73insAGCCCCG	XP_024302523.1:p.Gln25SerfsTer?
XM_024446756.1:c.72_73insAGCCCCG	XP_024302524.1:p.Gln25SerfsTer?
XM_024446757.1:c.72_73insAGCCCCG	XP_024302525.1:p.Gln25SerfsTer?
XM_024446758.1:c.-248_-247insAGCCCCG	XP_024302526.1:n.-248_-247insAGCCCCG
NM_000883.4:c.72_73insAGCCCCG MANE Select	NP_000874.2:p.Gln25SerfsTer29
NM_001102605.2:c.72_73insAGCCCCG	NP_001096075.1:p.Gln25SerfsTer?
NM_001142576.2:c.72_73insAGCCCCG	NP_001136048.1:p.Gln25SerfsTer29
NM_001304521.2:c.72_73insAGCCCCG	NP_001291450.1:p.Gln25SerfsTer?
NM_183243.3:c.72_73insAGCCCCG	NP_899066.1:p.Gln25SerfsTer?