Canonical Allele Identifier: CA562232128

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1363596460
• gnomAD v2: 5-125887742-CAA-C
• gnomAD v4: 5-126552050-CAA-C
• MyVariant Identifiers: chr5:g.125887743_125887744del (hg19) ; chr5:g.126552051_126552052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552053_126552054del , CM000667.2:g.126552053_126552054del	GRCh38
NC_000005.9:g.125887745_125887746del , CM000667.1:g.125887745_125887746del	GRCh37
NC_000005.8:g.125915644_125915645del	NCBI36
NG_008600.2:g.48339_48340del
NG_008600.3:g.48339_48340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1286_1287del MANE Select	ENSP00000387123.3:p.Phe429CysfsTer8
ENST00000458249.6:c.*1195_*1196del	ENSP00000403929.1:n.*1195_*1196del
ENST00000497231.7:n.1713_1714del
ENST00000503281.6:c.875_876del
ENST00000635851.1:c.1284_1285del
ENST00000636062.1:n.1181_1182del
ENST00000636225.1:c.*1230_*1231del	ENSP00000490797.1:n.*1230_*1231del
ENST00000636286.1:n.1004_1005del
ENST00000636482.1:n.773_774del
ENST00000636743.1:c.1166_1167del	ENSP00000489725.1:p.Phe389CysfsTer8
ENST00000636808.1:c.*1095_*1096del	ENSP00000490833.1:n.*1095_*1096del
ENST00000636872.1:c.1446_1447del	ENSP00000490919.1:n.1446_1447del
ENST00000636879.1:c.1331_1332del	ENSP00000490811.1:p.Phe444CysfsTer8
ENST00000636886.1:c.1085_1086del	ENSP00000490371.1:p.Phe362CysfsTer8
ENST00000637206.1:c.1106_1107del	ENSP00000489895.1:p.Phe369CysfsTer8
ENST00000637272.1:c.1277_1278del	ENSP00000489686.1:p.Phe426CysfsTer8
ENST00000637292.1:c.774-1759_774-1758del
ENST00000637782.1:c.1286_1287del	ENSP00000490024.1:p.Phe429CysfsTer8
ENST00000638008.1:c.*1130_*1131del	ENSP00000490400.1:n.*1130_*1131del
ENST00000638010.1:n.1232_1233del
ENST00000409134.7:c.1286_1287del	ENSP00000387123.3:p.Phe429CysfsTer8
ENST00000447989.6:c.1175_1176del	ENSP00000414132.2:p.Phe392CysfsTer8
ENST00000476328.1:n.51_52del
ENST00000497231.6:n.1496_1497del
ENST00000503281.5:c.875_876del
ENST00000553117.5:c.1094_1095del	ENSP00000448593.1:p.Phe365CysfsTer8
NM_001182.4:c.1286_1287del	NP_001173.2:p.Phe429CysfsTer8
NM_001201377.1:c.1202_1203del	NP_001188306.1:p.Phe401CysfsTer8
NM_001202404.1:c.1175_1176del	NP_001189333.1:p.Phe392CysfsTer8
XM_011543417.1:c.881_882del	XP_011541719.1:p.Phe294CysfsTer8
XM_011543417.2:c.881_882del	XP_011541719.1:p.Phe294CysfsTer8
NM_001182.5:c.1286_1287del MANE Select	NP_001173.2:p.Phe429CysfsTer8
NM_001201377.2:c.1202_1203del	NP_001188306.1:p.Phe401CysfsTer8
NM_001202404.2:c.1094_1095del	NP_001189333.2:p.Phe365CysfsTer8