Canonical Allele Identifier: CA2060426968
Gene: ALDH1L2 HGNC NCBI
NOPCHAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1876789198

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105058707_105058716del , CM000674.2:g.105058707_105058716del GRCh38
NC_000012.11:g.105452485_105452494del , CM000674.1:g.105452485_105452494del GRCh37
NC_000012.10:g.103976615_103976624del NCBI36
NG_012748.1:g.30849_30858del

Transcript Alleles

HGVS Amino-acid change
ENST00000258494.14:c.1140-495_1140-486del (ALDH1L2) MANE Select ENSP00000258494.9:n.1140-495_1140-486del
ENST00000547750.2:c.*31-13646_*31-13637del (NOPCHAP1) ENSP00000490830.1:n.*31-13646_*31-13637de...
ENST00000622317.5:c.*31-1724_*31-1715del (NOPCHAP1) ENSP00000477543.2:n.*31-1724_*31-1715del
ENST00000652515.1:c.1167-495_1167-486del (ALDH1L2) ENSP00000499136.1:n.1167-495_1167-486del
ENST00000258494.13:c.1140-495_1140-486del (ALDH1L2) ENSP00000258494.9:n.1140-495_1140-486del
ENST00000549335.5:n.482-495_482-486del (ALDH1L2)
ENST00000552270.1:c.*524-495_*524-486del (ALDH1L2) ENSP00000447538.1:n.*524-495_*524-486del
NM_001034173.3:c.1140-495_1140-486del (ALDH1L2) NP_001029345.2:n.1140-495_1140-486del
NR_027752.1:n.1263-495_1263-486del (ALDH1L2)
XM_011537986.1:c.702-495_702-486del (ALDH1L2) XP_011536288.1:n.702-495_702-486del
XM_011537987.1:c.702-495_702-486del (ALDH1L2) XP_011536289.1:n.702-495_702-486del
XM_011537988.1:c.1140-495_1140-486del (ALDH1L2) XP_011536290.1:n.1140-495_1140-486del
XM_011537989.1:c.1140-495_1140-486del (ALDH1L2) XP_011536291.1:n.1140-495_1140-486del
XM_011537986.2:c.702-495_702-486del (ALDH1L2) XP_011536288.1:n.702-495_702-486del
XM_011537988.3:c.1140-495_1140-486del (ALDH1L2) XP_011536290.1:n.1140-495_1140-486del
XM_011537989.3:c.1140-495_1140-486del (ALDH1L2) XP_011536291.1:n.1140-495_1140-486del
XM_017018889.1:c.702-495_702-486del (ALDH1L2) XP_016874378.1:n.702-495_702-486del
XM_017018890.2:c.1140-495_1140-486del (ALDH1L2) XP_016874379.1:n.1140-495_1140-486del
NM_001034173.4:c.1140-495_1140-486del (ALDH1L2) MANE Select NP_001029345.2:n.1140-495_1140-486del
NR_027752.2:n.1158-495_1158-486del (ALDH1L2)