Canonical Allele Identifier: CA242621236

Gene: ALDH1L2 NOPCHAP1

Linked Data

• dbSNP Id: rs772190635
• gnomAD v3: 12-105058744-TGTTA-T
• gnomAD v4: 12-105058744-TGTTA-T
• MyVariant Identifiers: chr12:g.105452523_105452526del (hg19) ; chr12:g.105058745_105058748del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105058748_105058751del , CM000674.2:g.105058748_105058751del	GRCh38
NC_000012.11:g.105452526_105452529del , CM000674.1:g.105452526_105452529del	GRCh37
NC_000012.10:g.103976656_103976659del	NCBI36
NG_012748.1:g.30816_30819del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258494.14:c.1140-528_1140-525del (ALDH1L2) MANE Select	ENSP00000258494.9:n.1140-528_1140-525del
ENST00000547750.2:c.*31-13605_*31-13602del (NOPCHAP1)	ENSP00000490830.1:n.*31-13605_*31-13602de...
ENST00000622317.5:c.*31-1683_*31-1680del (NOPCHAP1)	ENSP00000477543.2:n.*31-1683_*31-1680del
ENST00000652515.1:c.1167-528_1167-525del (ALDH1L2)	ENSP00000499136.1:n.1167-528_1167-525del
ENST00000258494.13:c.1140-528_1140-525del (ALDH1L2)	ENSP00000258494.9:n.1140-528_1140-525del
ENST00000549335.5:n.482-528_482-525del (ALDH1L2)
ENST00000552270.1:c.*524-528_*524-525del (ALDH1L2)	ENSP00000447538.1:n.*524-528_*524-525del
NM_001034173.3:c.1140-528_1140-525del (ALDH1L2)	NP_001029345.2:n.1140-528_1140-525del
NR_027752.1:n.1263-528_1263-525del (ALDH1L2)
XM_011537986.1:c.702-528_702-525del (ALDH1L2)	XP_011536288.1:n.702-528_702-525del
XM_011537987.1:c.702-528_702-525del (ALDH1L2)	XP_011536289.1:n.702-528_702-525del
XM_011537988.1:c.1140-528_1140-525del (ALDH1L2)	XP_011536290.1:n.1140-528_1140-525del
XM_011537989.1:c.1140-528_1140-525del (ALDH1L2)	XP_011536291.1:n.1140-528_1140-525del
XM_011537986.2:c.702-528_702-525del (ALDH1L2)	XP_011536288.1:n.702-528_702-525del
XM_011537988.3:c.1140-528_1140-525del (ALDH1L2)	XP_011536290.1:n.1140-528_1140-525del
XM_011537989.3:c.1140-528_1140-525del (ALDH1L2)	XP_011536291.1:n.1140-528_1140-525del
XM_017018889.1:c.702-528_702-525del (ALDH1L2)	XP_016874378.1:n.702-528_702-525del
XM_017018890.2:c.1140-528_1140-525del (ALDH1L2)	XP_016874379.1:n.1140-528_1140-525del
NM_001034173.4:c.1140-528_1140-525del (ALDH1L2) MANE Select	NP_001029345.2:n.1140-528_1140-525del
NR_027752.2:n.1158-528_1158-525del (ALDH1L2)