Canonical Allele Identifier: CA258080

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 17999
• ClinVar RCV Id: RCV000019615 ; RCV001092771 ; RCV001814003
• dbSNP Id: rs387906574
• gnomAD v4: 5-126544987-GC-G
• MyVariant Identifiers: chr5:g.125880680del (hg19) ; chr5:g.126544988del (hg38)
• PubMed: PMID:16491085

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544989del , CM000667.2:g.126544989del	GRCh38
NC_000005.9:g.125880681del , CM000667.1:g.125880681del	GRCh37
NC_000005.8:g.125908580del	NCBI36
NG_008600.2:g.55403del
NG_008600.3:g.55403del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1597del MANE Select	ENSP00000387123.3:p.Ala533ProfsTer18
ENST00000458249.6:c.*1506del	ENSP00000403929.1:n.*1506del
ENST00000485852.7:n.344del
ENST00000497231.7:n.2024del
ENST00000635851.1:c.1563+1336del
ENST00000636286.1:n.1362del
ENST00000636482.1:n.1131del
ENST00000636743.1:c.1477del	ENSP00000489725.1:p.Ala493ProfsTer18
ENST00000636808.1:c.*1406del	ENSP00000490833.1:n.*1406del
ENST00000636872.1:c.1757del	ENSP00000490919.1:n.1757del
ENST00000636879.1:c.1642del	ENSP00000490811.1:p.Ala548ProfsTer18
ENST00000636886.1:c.1396del	ENSP00000490371.1:p.Ala466ProfsTer18
ENST00000637206.1:c.1417del	ENSP00000489895.1:p.Ala473ProfsTer18
ENST00000637272.1:c.1588del	ENSP00000489686.1:p.Ala530ProfsTer18
ENST00000637292.1:c.1053del
ENST00000637782.1:c.1565+1336del	ENSP00000490024.1:n.1565+1336del
ENST00000638008.1:c.*1441del	ENSP00000490400.1:n.*1441del
ENST00000638010.1:n.1543del
ENST00000409134.7:c.1597del	ENSP00000387123.3:p.Ala533ProfsTer18
ENST00000447989.6:c.1486del	ENSP00000414132.2:p.Ala496ProfsTer18
ENST00000485852.6:n.344del
ENST00000497231.6:n.1807del
ENST00000553117.5:c.1405del	ENSP00000448593.1:p.Ala469ProfsTer18
NM_001182.4:c.1597del	NP_001173.2:p.Ala533ProfsTer18
NM_001201377.1:c.1513del	NP_001188306.1:p.Ala505ProfsTer18
NM_001202404.1:c.1486del	NP_001189333.1:p.Ala496ProfsTer18
XM_011543417.1:c.1192del	XP_011541719.1:p.Ala398ProfsTer18
XM_011543417.2:c.1192del	XP_011541719.1:p.Ala398ProfsTer18
NM_001182.5:c.1597del MANE Select	NP_001173.2:p.Ala533ProfsTer18
NM_001201377.2:c.1513del	NP_001188306.1:p.Ala505ProfsTer18
NM_001202404.2:c.1405del	NP_001189333.2:p.Ala469ProfsTer18