Canonical Allele Identifier: CA683043858

Gene: ALDH1L2 NOPCHAP1

Linked Data

• dbSNP Id: rs1347221159
• MyVariant Identifiers: chr12:g.105452364_105452365del (hg19) ; chr12:g.105058586_105058587del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105058587_105058588del , CM000674.2:g.105058587_105058588del	GRCh38
NC_000012.11:g.105452365_105452366del , CM000674.1:g.105452365_105452366del	GRCh37
NC_000012.10:g.103976495_103976496del	NCBI36
NG_012748.1:g.30977_30978del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258494.14:c.1140-367_1140-366del (ALDH1L2) MANE Select	ENSP00000258494.9:n.1140-367_1140-366del
ENST00000547750.2:c.*31-13766_*31-13765del (NOPCHAP1)	ENSP00000490830.1:n.*31-13766_*31-13765de...
ENST00000622317.5:c.*31-1844_*31-1843del (NOPCHAP1)	ENSP00000477543.2:n.*31-1844_*31-1843del
ENST00000652515.1:c.1167-367_1167-366del (ALDH1L2)	ENSP00000499136.1:n.1167-367_1167-366del
ENST00000258494.13:c.1140-367_1140-366del (ALDH1L2)	ENSP00000258494.9:n.1140-367_1140-366del
ENST00000549335.5:n.482-367_482-366del (ALDH1L2)
ENST00000552270.1:c.*524-367_*524-366del (ALDH1L2)	ENSP00000447538.1:n.*524-367_*524-366del
NM_001034173.3:c.1140-367_1140-366del (ALDH1L2)	NP_001029345.2:n.1140-367_1140-366del
NR_027752.1:n.1263-367_1263-366del (ALDH1L2)
XM_011537986.1:c.702-367_702-366del (ALDH1L2)	XP_011536288.1:n.702-367_702-366del
XM_011537987.1:c.702-367_702-366del (ALDH1L2)	XP_011536289.1:n.702-367_702-366del
XM_011537988.1:c.1140-367_1140-366del (ALDH1L2)	XP_011536290.1:n.1140-367_1140-366del
XM_011537989.1:c.1140-367_1140-366del (ALDH1L2)	XP_011536291.1:n.1140-367_1140-366del
XM_011537986.2:c.702-367_702-366del (ALDH1L2)	XP_011536288.1:n.702-367_702-366del
XM_011537988.3:c.1140-367_1140-366del (ALDH1L2)	XP_011536290.1:n.1140-367_1140-366del
XM_011537989.3:c.1140-367_1140-366del (ALDH1L2)	XP_011536291.1:n.1140-367_1140-366del
XM_017018889.1:c.702-367_702-366del (ALDH1L2)	XP_016874378.1:n.702-367_702-366del
XM_017018890.2:c.1140-367_1140-366del (ALDH1L2)	XP_016874379.1:n.1140-367_1140-366del
NM_001034173.4:c.1140-367_1140-366del (ALDH1L2) MANE Select	NP_001029345.2:n.1140-367_1140-366del
NR_027752.2:n.1158-367_1158-366del (ALDH1L2)