Canonical Allele Identifier: CA683047841

Gene: ALDH1L2 NOPCHAP1

Linked Data

• dbSNP Id: rs1324138201
• MyVariant Identifiers: chr12:g.105458766_105458769del (hg19) ; chr12:g.105064988_105064991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105064989_105064992del , CM000674.2:g.105064989_105064992del	GRCh38
NC_000012.11:g.105458767_105458770del , CM000674.1:g.105458767_105458770del	GRCh37
NC_000012.10:g.103982897_103982900del	NCBI36
NG_012748.1:g.24573_24576del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258494.14:c.786+276_786+279del (ALDH1L2) MANE Select	ENSP00000258494.9:n.786+276_786+279del
ENST00000547750.2:c.*31-7364_*31-7361del (NOPCHAP1)	ENSP00000490830.1:n.*31-7364_*31-7361del
ENST00000652515.1:c.813+276_813+279del (ALDH1L2)	ENSP00000499136.1:n.813+276_813+279del
ENST00000258494.13:c.786+276_786+279del (ALDH1L2)	ENSP00000258494.9:n.786+276_786+279del
ENST00000549335.5:n.128+276_128+279del (ALDH1L2)
ENST00000552270.1:c.*170+276_*170+279del (ALDH1L2)	ENSP00000447538.1:n.*170+276_*170+279del
NM_001034173.3:c.786+276_786+279del (ALDH1L2)	NP_001029345.2:n.786+276_786+279del
NR_027752.1:n.909+276_909+279del (ALDH1L2)
XM_011537986.1:c.348+276_348+279del (ALDH1L2)	XP_011536288.1:n.348+276_348+279del
XM_011537987.1:c.348+276_348+279del (ALDH1L2)	XP_011536289.1:n.348+276_348+279del
XM_011537988.1:c.786+276_786+279del (ALDH1L2)	XP_011536290.1:n.786+276_786+279del
XM_011537989.1:c.786+276_786+279del (ALDH1L2)	XP_011536291.1:n.786+276_786+279del
XM_011537986.2:c.348+276_348+279del (ALDH1L2)	XP_011536288.1:n.348+276_348+279del
XM_011537988.3:c.786+276_786+279del (ALDH1L2)	XP_011536290.1:n.786+276_786+279del
XM_011537989.3:c.786+276_786+279del (ALDH1L2)	XP_011536291.1:n.786+276_786+279del
XM_017018889.1:c.348+276_348+279del (ALDH1L2)	XP_016874378.1:n.348+276_348+279del
XM_017018890.2:c.786+276_786+279del (ALDH1L2)	XP_016874379.1:n.786+276_786+279del
NM_001034173.4:c.786+276_786+279del (ALDH1L2) MANE Select	NP_001029345.2:n.786+276_786+279del
NR_027752.2:n.804+276_804+279del (ALDH1L2)