Canonical Allele Identifier: CA4471171

Gene: IMPDH1

Linked Data

• dbSNP Id: rs758611466
• ExAC: 7:128041195 TAA / T
• gnomAD v2: 7-128041195-TAA-T
• gnomAD v3: 7-128401141-TAA-T
• gnomAD v4: 7-128401141-TAA-T
• MyVariant Identifiers: chr7:g.128041196_128041197del (hg19) ; chr7:g.128401142_128401143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128401143_128401144del , CM000669.2:g.128401143_128401144del	GRCh38
NC_000007.13:g.128041197_128041198del , CM000669.1:g.128041197_128041198del	GRCh37
NC_000007.12:g.127828433_127828434del	NCBI36
NG_009194.1:g.13840_13841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.295-27_295-26del	ENSP00000265385.8:n.295-27_295-26del
ENST00000484496.6:n.259-27_259-26del
ENST00000338791.11:c.403-27_403-26del MANE Select	ENSP00000345096.6:n.403-27_403-26del
ENST00000648462.1:c.50-27_50-26del
ENST00000338791.10:c.403-27_403-26del	ENSP00000345096.6:n.403-27_403-26del
ENST00000348127.10:c.295-27_295-26del	ENSP00000265385.8:n.295-27_295-26del
ENST00000354269.9:c.373-27_373-26del	ENSP00000346219.5:n.373-27_373-26del
ENST00000419067.6:c.304-27_304-26del	ENSP00000399400.2:n.304-27_304-26del
ENST00000469328.5:c.149-27_149-26del
ENST00000470772.5:c.148-27_148-26del	ENSP00000417296.1:n.148-27_148-26del
ENST00000473463.1:c.*149-27_*149-26del	ENSP00000420469.1:n.*149-27_*149-26del
ENST00000480861.5:c.148-27_148-26del	ENSP00000420185.1:n.148-27_148-26del
ENST00000484496.5:c.259-27_259-26del	ENSP00000418742.1:n.259-27_259-26del
ENST00000489263.1:c.196-27_196-26del	ENSP00000418592.1:n.196-27_196-26del
ENST00000491376.5:n.572-27_572-26del
ENST00000496200.5:c.148-27_148-26del	ENSP00000420803.1:n.148-27_148-26del
ENST00000496487.5:n.223-27_223-26del
ENST00000497868.5:c.196-27_196-26del	ENSP00000419609.1:n.196-27_196-26del
ENST00000626419.2:c.148-27_148-26del	ENSP00000486056.1:n.148-27_148-26del
NM_000883.3:c.403-27_403-26del	NP_000874.2:n.403-27_403-26del
NM_001102605.1:c.373-27_373-26del	NP_001096075.1:n.373-27_373-26del
NM_001142573.1:c.148-27_148-26del	NP_001136045.1:n.148-27_148-26del
NM_001142574.1:c.148-27_148-26del	NP_001136046.1:n.148-27_148-26del
NM_001142575.1:c.148-27_148-26del	NP_001136047.1:n.148-27_148-26del
NM_001142576.1:c.304-27_304-26del	NP_001136048.1:n.304-27_304-26del
NM_001304521.1:c.196-27_196-26del	NP_001291450.1:n.196-27_196-26del
NM_183243.2:c.295-27_295-26del	NP_899066.1:n.295-27_295-26del
XM_005250314.1:c.172-27_172-26del	XP_005250371.1:n.172-27_172-26del
XM_006715967.1:c.403-27_403-26del	XP_006716030.1:n.403-27_403-26del
XM_006715968.1:c.373-27_373-26del	XP_006716031.1:n.373-27_373-26del
XM_006715969.1:c.295-27_295-26del	XP_006716032.1:n.295-27_295-26del
XM_006715970.2:c.196-27_196-26del	XP_006716033.1:n.196-27_196-26del
XM_006715971.1:c.172-27_172-26del	XP_006716034.1:n.172-27_172-26del
XM_017012172.1:c.172-27_172-26del	XP_016867661.1:n.172-27_172-26del
XM_017012173.1:c.373-27_373-26del	XP_016867662.1:n.373-27_373-26del
XM_024446755.1:c.373-27_373-26del	XP_024302523.1:n.373-27_373-26del
XM_024446756.1:c.295-27_295-26del	XP_024302524.1:n.295-27_295-26del
XM_024446757.1:c.196-27_196-26del	XP_024302525.1:n.196-27_196-26del
XM_024446758.1:c.172-27_172-26del	XP_024302526.1:n.172-27_172-26del
NM_000883.4:c.403-27_403-26del MANE Select	NP_000874.2:n.403-27_403-26del
NM_001102605.2:c.373-27_373-26del	NP_001096075.1:n.373-27_373-26del
NM_001142573.2:c.148-27_148-26del	NP_001136045.1:n.148-27_148-26del
NM_001142574.2:c.148-27_148-26del	NP_001136046.1:n.148-27_148-26del
NM_001142575.2:c.148-27_148-26del	NP_001136047.1:n.148-27_148-26del
NM_001142576.2:c.304-27_304-26del	NP_001136048.1:n.304-27_304-26del
NM_001304521.2:c.196-27_196-26del	NP_001291450.1:n.196-27_196-26del
NM_183243.3:c.295-27_295-26del	NP_899066.1:n.295-27_295-26del