Canonical Allele Identifier: CA2797298288
Gene: ALDH1L2 HGNC NCBI
NOPCHAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105058716_105058718del , CM000674.2:g.105058716_105058718del GRCh38
NC_000012.11:g.105452494_105452496del , CM000674.1:g.105452494_105452496del GRCh37
NC_000012.10:g.103976624_103976626del NCBI36
NG_012748.1:g.30847_30849del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258494.14:c.1140-497_1140-495del (ALDH1L2) MANE Select ENSP00000258494.9:n.1140-497_1140-495del
ENST00000547750.2:c.*31-13637_*31-13635del (NOPCHAP1) ENSP00000490830.1:n.*31-13637_*31-13635del
ENST00000622317.5:c.*31-1715_*31-1713del (NOPCHAP1) ENSP00000477543.2:n.*31-1715_*31-1713del
ENST00000652515.1:c.1167-497_1167-495del (ALDH1L2) ENSP00000499136.1:n.1167-497_1167-495del
ENST00000258494.13:c.1140-497_1140-495del (ALDH1L2) ENSP00000258494.9:n.1140-497_1140-495del
ENST00000549335.5:n.482-497_482-495del (ALDH1L2)
ENST00000552270.1:c.*524-497_*524-495del (ALDH1L2) ENSP00000447538.1:n.*524-497_*524-495del
NM_001034173.3:c.1140-497_1140-495del (ALDH1L2) NP_001029345.2:n.1140-497_1140-495del
NR_027752.1:n.1263-497_1263-495del (ALDH1L2)
XM_011537986.1:c.702-497_702-495del (ALDH1L2) XP_011536288.1:n.702-497_702-495del
XM_011537987.1:c.702-497_702-495del (ALDH1L2) XP_011536289.1:n.702-497_702-495del
XM_011537988.1:c.1140-497_1140-495del (ALDH1L2) XP_011536290.1:n.1140-497_1140-495del
XM_011537989.1:c.1140-497_1140-495del (ALDH1L2) XP_011536291.1:n.1140-497_1140-495del
XM_011537986.2:c.702-497_702-495del (ALDH1L2) XP_011536288.1:n.702-497_702-495del
XM_011537988.3:c.1140-497_1140-495del (ALDH1L2) XP_011536290.1:n.1140-497_1140-495del
XM_011537989.3:c.1140-497_1140-495del (ALDH1L2) XP_011536291.1:n.1140-497_1140-495del
XM_017018889.1:c.702-497_702-495del (ALDH1L2) XP_016874378.1:n.702-497_702-495del
XM_017018890.2:c.1140-497_1140-495del (ALDH1L2) XP_016874379.1:n.1140-497_1140-495del
NM_001034173.4:c.1140-497_1140-495del (ALDH1L2) MANE Select NP_001029345.2:n.1140-497_1140-495del
NR_027752.2:n.1158-497_1158-495del (ALDH1L2)