Canonical Allele Identifier: CA562231057

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs10630162
• gnomAD v2: 5-125882343-TA-T
• gnomAD v3: 5-126546651-TA-T
• gnomAD v4: 5-126546651-TA-T
• MyVariant Identifiers: chr5:g.125882345del (hg19) ; chr5:g.125882344del (hg19) ; chr5:g.126546653del (hg38) ; chr5:g.126546652del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546666del , CM000667.2:g.126546666del	GRCh38
NC_000005.9:g.125882358del , CM000667.1:g.125882358del	GRCh37
NC_000005.8:g.125910257del	NCBI36
NG_008600.2:g.53739del
NG_008600.3:g.53739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-253del MANE Select	ENSP00000387123.3:n.1490-253del
ENST00000458249.6:c.*1399-253del	ENSP00000403929.1:n.*1399-253del
ENST00000485852.7:n.237-253del
ENST00000497231.7:n.1917-253del
ENST00000635851.1:c.1488-253del
ENST00000636225.1:c.*1434-253del	ENSP00000490797.1:n.*1434-253del
ENST00000636286.1:n.1255-253del
ENST00000636482.1:n.1024-253del
ENST00000636743.1:c.1370-253del	ENSP00000489725.1:n.1370-253del
ENST00000636808.1:c.*1299-253del	ENSP00000490833.1:n.*1299-253del
ENST00000636872.1:c.1650-253del	ENSP00000490919.1:n.1650-253del
ENST00000636879.1:c.1535-253del	ENSP00000490811.1:n.1535-253del
ENST00000636886.1:c.1289-253del	ENSP00000490371.1:n.1289-253del
ENST00000637206.1:c.1310-253del	ENSP00000489895.1:n.1310-253del
ENST00000637272.1:c.1481-253del	ENSP00000489686.1:n.1481-253del
ENST00000637292.1:c.946-253del
ENST00000637782.1:c.1490-253del	ENSP00000490024.1:n.1490-253del
ENST00000638008.1:c.*1334-253del	ENSP00000490400.1:n.*1334-253del
ENST00000638010.1:n.1436-253del
ENST00000409134.7:c.1490-253del	ENSP00000387123.3:n.1490-253del
ENST00000447989.6:c.1379-253del	ENSP00000414132.2:n.1379-253del
ENST00000485852.6:n.237-253del
ENST00000497231.6:n.1700-253del
ENST00000553117.5:c.1298-253del	ENSP00000448593.1:n.1298-253del
NM_001182.4:c.1490-253del	NP_001173.2:n.1490-253del
NM_001201377.1:c.1406-253del	NP_001188306.1:n.1406-253del
NM_001202404.1:c.1379-253del	NP_001189333.1:n.1379-253del
XM_011543417.1:c.1085-253del	XP_011541719.1:n.1085-253del
XM_011543417.2:c.1085-253del	XP_011541719.1:n.1085-253del
NM_001182.5:c.1490-253del MANE Select	NP_001173.2:n.1490-253del
NM_001201377.2:c.1406-253del	NP_001188306.1:n.1406-253del
NM_001202404.2:c.1298-253del	NP_001189333.2:n.1298-253del