Canonical Allele Identifier: CA951398981

Gene: ALDH1L2 NOPCHAP1

Linked Data

• dbSNP Id: rs1876781601
• gnomAD v3: 12-105058565-CACTTTCCTA-C
• gnomAD v4: 12-105058565-CACTTTCCTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105058569_105058577del , CM000674.2:g.105058569_105058577del	GRCh38
NC_000012.11:g.105452347_105452355del , CM000674.1:g.105452347_105452355del	GRCh37
NC_000012.10:g.103976477_103976485del	NCBI36
NG_012748.1:g.30990_30998del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258494.14:c.1140-354_1140-346del (ALDH1L2) MANE Select	ENSP00000258494.9:n.1140-354_1140-346del
ENST00000547750.2:c.*31-13784_*31-13776del (NOPCHAP1)	ENSP00000490830.1:n.*31-13784_*31-13776de...
ENST00000622317.5:c.*31-1862_*31-1854del (NOPCHAP1)	ENSP00000477543.2:n.*31-1862_*31-1854del
ENST00000652515.1:c.1167-354_1167-346del (ALDH1L2)	ENSP00000499136.1:n.1167-354_1167-346del
ENST00000258494.13:c.1140-354_1140-346del (ALDH1L2)	ENSP00000258494.9:n.1140-354_1140-346del
ENST00000549335.5:n.482-354_482-346del (ALDH1L2)
ENST00000552270.1:c.*524-354_*524-346del (ALDH1L2)	ENSP00000447538.1:n.*524-354_*524-346del
NM_001034173.3:c.1140-354_1140-346del (ALDH1L2)	NP_001029345.2:n.1140-354_1140-346del
NR_027752.1:n.1263-354_1263-346del (ALDH1L2)
XM_011537986.1:c.702-354_702-346del (ALDH1L2)	XP_011536288.1:n.702-354_702-346del
XM_011537987.1:c.702-354_702-346del (ALDH1L2)	XP_011536289.1:n.702-354_702-346del
XM_011537988.1:c.1140-354_1140-346del (ALDH1L2)	XP_011536290.1:n.1140-354_1140-346del
XM_011537989.1:c.1140-354_1140-346del (ALDH1L2)	XP_011536291.1:n.1140-354_1140-346del
XM_011537986.2:c.702-354_702-346del (ALDH1L2)	XP_011536288.1:n.702-354_702-346del
XM_011537988.3:c.1140-354_1140-346del (ALDH1L2)	XP_011536290.1:n.1140-354_1140-346del
XM_011537989.3:c.1140-354_1140-346del (ALDH1L2)	XP_011536291.1:n.1140-354_1140-346del
XM_017018889.1:c.702-354_702-346del (ALDH1L2)	XP_016874378.1:n.702-354_702-346del
XM_017018890.2:c.1140-354_1140-346del (ALDH1L2)	XP_016874379.1:n.1140-354_1140-346del
NM_001034173.4:c.1140-354_1140-346del (ALDH1L2) MANE Select	NP_001029345.2:n.1140-354_1140-346del
NR_027752.2:n.1158-354_1158-346del (ALDH1L2)