Canonical Allele Identifier: CA1580455168

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1751000655

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577111_126577112del , CM000667.2:g.126577111_126577112del	GRCh38
NC_000005.9:g.125912803_125912804del , CM000667.1:g.125912803_125912804del	GRCh37
NC_000005.8:g.125940702_125940703del	NCBI36
NG_008600.2:g.23279_23280del
NG_008600.3:g.23279_23280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.617_618del MANE Select	ENSP00000387123.3:p.Ala206AspfsTer21
ENST00000412186.2:c.493_494del	ENSP00000414536.2:n.493_494del
ENST00000413020.6:c.617_618del	ENSP00000487936.1:p.Ala206AspfsTer21
ENST00000458249.6:c.*526_*527del	ENSP00000403929.1:n.*526_*527del
ENST00000503281.6:c.206_207del
ENST00000509270.2:c.551_552del	ENSP00000449318.2:p.Ala184AspfsTer?
ENST00000509459.6:c.165_166del
ENST00000511266.6:n.1339_1340del
ENST00000635851.1:c.615_616del
ENST00000636062.1:n.512_513del
ENST00000636225.1:c.*426_*427del	ENSP00000490797.1:n.*426_*427del
ENST00000636286.1:n.335_336del
ENST00000636743.1:c.497_498del	ENSP00000489725.1:p.Ala166AspfsTer21
ENST00000636808.1:c.*426_*427del	ENSP00000490833.1:n.*426_*427del
ENST00000636872.1:c.777_778del	ENSP00000490919.1:n.777_778del
ENST00000636879.1:c.662_663del	ENSP00000490811.1:p.Ala221AspfsTer21
ENST00000636886.1:c.416_417del	ENSP00000490371.1:p.Ala139AspfsTer21
ENST00000637206.1:c.617_618del	ENSP00000489895.1:p.Ala206AspfsTer21
ENST00000637272.1:c.617_618del	ENSP00000489686.1:p.Ala206AspfsTer21
ENST00000637292.1:c.270_271del
ENST00000637782.1:c.617_618del	ENSP00000490024.1:p.Ala206AspfsTer21
ENST00000637964.1:c.563_564del	ENSP00000490291.1:p.Ala188AspfsTer21
ENST00000638008.1:c.*559_*560del	ENSP00000490400.1:n.*559_*560del
ENST00000409134.7:c.617_618del	ENSP00000387123.3:p.Ala206AspfsTer21
ENST00000413020.5:c.617_618del	ENSP00000487936.1:p.Ala206AspfsTer21
ENST00000433026.5:n.144_145del
ENST00000447989.6:c.698_699del	ENSP00000414132.2:p.Ala233AspfsTer21
ENST00000458249.5:c.777_778del	ENSP00000403929.1:n.777_778del
ENST00000503281.5:c.206_207del
ENST00000509459.5:c.165_166del
ENST00000510111.6:c.530_531del	ENSP00000447388.1:p.Ala177AspfsTer21
ENST00000511266.5:n.448_449del
ENST00000553117.5:c.617_618del	ENSP00000448593.1:p.Ala206AspfsTer21
NM_001182.4:c.617_618del	NP_001173.2:p.Ala206AspfsTer21
NM_001201377.1:c.533_534del	NP_001188306.1:p.Ala178AspfsTer21
NM_001202404.1:c.698_699del	NP_001189333.1:p.Ala233AspfsTer21
XM_011543417.1:c.212_213del	XP_011541719.1:p.Ala71AspfsTer21
XM_011543417.2:c.212_213del	XP_011541719.1:p.Ala71AspfsTer21
NM_001182.5:c.617_618del MANE Select	NP_001173.2:p.Ala206AspfsTer21
NM_001201377.2:c.533_534del	NP_001188306.1:p.Ala178AspfsTer21
NM_001202404.2:c.617_618del	NP_001189333.2:p.Ala206AspfsTer21