Canonical Allele Identifier: CA562231064

Gene: ALDH7A1

Linked Data

• gnomAD v2: 5-125882345-A-AAAG
• gnomAD v3: 5-126546653-A-AAAG
• gnomAD v4: 5-126546653-A-AAAG
• MyVariant Identifiers: chr5:g.125882345_125882346insAAG (hg19) ; chr5:g.126546653_126546654insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546655_126546656insGAA , CM000667.2:g.126546655_126546656insGAA	GRCh38
NC_000005.9:g.125882347_125882348insGAA , CM000667.1:g.125882347_125882348insGAA	GRCh37
NC_000005.8:g.125910246_125910247insGAA	NCBI36
NG_008600.2:g.53737_53738insCTT
NG_008600.3:g.53737_53738insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-255_1490-254insCTT MANE Select	ENSP00000387123.3:n.1490-255_1490-254insCTT
ENST00000458249.6:c.*1399-255_*1399-254insCTT	ENSP00000403929.1:n.*1399-255_*1399-254insCTT
ENST00000485852.7:n.237-255_237-254insCTT
ENST00000497231.7:n.1917-255_1917-254insCTT
ENST00000635851.1:c.1488-255_1488-254insCTT
ENST00000636225.1:c.*1434-255_*1434-254insCTT	ENSP00000490797.1:n.*1434-255_*1434-254insCTT
ENST00000636286.1:n.1255-255_1255-254insCTT
ENST00000636482.1:n.1024-255_1024-254insCTT
ENST00000636743.1:c.1370-255_1370-254insCTT	ENSP00000489725.1:n.1370-255_1370-254insCTT
ENST00000636808.1:c.*1299-255_*1299-254insCTT	ENSP00000490833.1:n.*1299-255_*1299-254insCTT
ENST00000636872.1:c.1650-255_1650-254insCTT	ENSP00000490919.1:n.1650-255_1650-254insCTT
ENST00000636879.1:c.1535-255_1535-254insCTT	ENSP00000490811.1:n.1535-255_1535-254insCTT
ENST00000636886.1:c.1289-255_1289-254insCTT	ENSP00000490371.1:n.1289-255_1289-254insCTT
ENST00000637206.1:c.1310-255_1310-254insCTT	ENSP00000489895.1:n.1310-255_1310-254insCTT
ENST00000637272.1:c.1481-255_1481-254insCTT	ENSP00000489686.1:n.1481-255_1481-254insCTT
ENST00000637292.1:c.946-255_946-254insCTT
ENST00000637782.1:c.1490-255_1490-254insCTT	ENSP00000490024.1:n.1490-255_1490-254insCTT
ENST00000638008.1:c.*1334-255_*1334-254insCTT	ENSP00000490400.1:n.*1334-255_*1334-254insCTT
ENST00000638010.1:n.1436-255_1436-254insCTT
ENST00000409134.7:c.1490-255_1490-254insCTT	ENSP00000387123.3:n.1490-255_1490-254insCTT
ENST00000447989.6:c.1379-255_1379-254insCTT	ENSP00000414132.2:n.1379-255_1379-254insCTT
ENST00000485852.6:n.237-255_237-254insCTT
ENST00000497231.6:n.1700-255_1700-254insCTT
ENST00000553117.5:c.1298-255_1298-254insCTT	ENSP00000448593.1:n.1298-255_1298-254insCTT
NM_001182.4:c.1490-255_1490-254insCTT	NP_001173.2:n.1490-255_1490-254insCTT
NM_001201377.1:c.1406-255_1406-254insCTT	NP_001188306.1:n.1406-255_1406-254insCTT
NM_001202404.1:c.1379-255_1379-254insCTT	NP_001189333.1:n.1379-255_1379-254insCTT
XM_011543417.1:c.1085-255_1085-254insCTT	XP_011541719.1:n.1085-255_1085-254insCTT
XM_011543417.2:c.1085-255_1085-254insCTT	XP_011541719.1:n.1085-255_1085-254insCTT
NM_001182.5:c.1490-255_1490-254insCTT MANE Select	NP_001173.2:n.1490-255_1490-254insCTT
NM_001201377.2:c.1406-255_1406-254insCTT	NP_001188306.1:n.1406-255_1406-254insCTT
NM_001202404.2:c.1298-255_1298-254insCTT	NP_001189333.2:n.1298-255_1298-254insCTT