Canonical Allele Identifier: CA2675067528

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126546462-A-ATCTTCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546464_126546465insTTCTTTTC , CM000667.2:g.126546464_126546465insTTCTTTTC	GRCh38
NC_000005.9:g.125882156_125882157insTTCTTTTC , CM000667.1:g.125882156_125882157insTTCTTTTC	GRCh37
NC_000005.8:g.125910055_125910056insTTCTTTTC	NCBI36
NG_008600.2:g.53928_53929insAAAGAAGA
NG_008600.3:g.53928_53929insAAAGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-64_1490-63insAAAGAAGA MANE Select	ENSP00000387123.3:n.1490-64_1490-63insAAAGAAGA
ENST00000458249.6:c.*1399-64_*1399-63insAAAGAAGA	ENSP00000403929.1:n.*1399-64_*1399-63insAAAGAAGA
ENST00000485852.7:n.237-64_237-63insAAAGAAGA
ENST00000497231.7:n.1917-64_1917-63insAAAGAAGA
ENST00000635851.1:c.1488-64_1488-63insAAAGAAGA
ENST00000636225.1:c.*1434-64_*1434-63insAAAGAAGA	ENSP00000490797.1:n.*1434-64_*1434-63insAAAGAAGA
ENST00000636286.1:n.1255-64_1255-63insAAAGAAGA
ENST00000636482.1:n.1024-64_1024-63insAAAGAAGA
ENST00000636743.1:c.1370-64_1370-63insAAAGAAGA	ENSP00000489725.1:n.1370-64_1370-63insAAAGAAGA
ENST00000636808.1:c.*1299-64_*1299-63insAAAGAAGA	ENSP00000490833.1:n.*1299-64_*1299-63insAAAGAAGA
ENST00000636872.1:c.1650-64_1650-63insAAAGAAGA	ENSP00000490919.1:n.1650-64_1650-63insAAAGAAGA
ENST00000636879.1:c.1535-64_1535-63insAAAGAAGA	ENSP00000490811.1:n.1535-64_1535-63insAAAGAAGA
ENST00000636886.1:c.1289-64_1289-63insAAAGAAGA	ENSP00000490371.1:n.1289-64_1289-63insAAAGAAGA
ENST00000637206.1:c.1310-64_1310-63insAAAGAAGA	ENSP00000489895.1:n.1310-64_1310-63insAAAGAAGA
ENST00000637272.1:c.1481-64_1481-63insAAAGAAGA	ENSP00000489686.1:n.1481-64_1481-63insAAAGAAGA
ENST00000637292.1:c.946-64_946-63insAAAGAAGA
ENST00000637782.1:c.1490-64_1490-63insAAAGAAGA	ENSP00000490024.1:n.1490-64_1490-63insAAAGAAGA
ENST00000638008.1:c.*1334-64_*1334-63insAAAGAAGA	ENSP00000490400.1:n.*1334-64_*1334-63insAAAGAAGA
ENST00000638010.1:n.1436-64_1436-63insAAAGAAGA
ENST00000409134.7:c.1490-64_1490-63insAAAGAAGA	ENSP00000387123.3:n.1490-64_1490-63insAAAGAAGA
ENST00000447989.6:c.1379-64_1379-63insAAAGAAGA	ENSP00000414132.2:n.1379-64_1379-63insAAAGAAGA
ENST00000485852.6:n.237-64_237-63insAAAGAAGA
ENST00000497231.6:n.1700-64_1700-63insAAAGAAGA
ENST00000553117.5:c.1298-64_1298-63insAAAGAAGA	ENSP00000448593.1:n.1298-64_1298-63insAAAGAAGA
NM_001182.4:c.1490-64_1490-63insAAAGAAGA	NP_001173.2:n.1490-64_1490-63insAAAGAAGA
NM_001201377.1:c.1406-64_1406-63insAAAGAAGA	NP_001188306.1:n.1406-64_1406-63insAAAGAAGA
NM_001202404.1:c.1379-64_1379-63insAAAGAAGA	NP_001189333.1:n.1379-64_1379-63insAAAGAAGA
XM_011543417.1:c.1085-64_1085-63insAAAGAAGA	XP_011541719.1:n.1085-64_1085-63insAAAGAAGA
XM_011543417.2:c.1085-64_1085-63insAAAGAAGA	XP_011541719.1:n.1085-64_1085-63insAAAGAAGA
NM_001182.5:c.1490-64_1490-63insAAAGAAGA MANE Select	NP_001173.2:n.1490-64_1490-63insAAAGAAGA
NM_001201377.2:c.1406-64_1406-63insAAAGAAGA	NP_001188306.1:n.1406-64_1406-63insAAAGAAGA
NM_001202404.2:c.1298-64_1298-63insAAAGAAGA	NP_001189333.2:n.1298-64_1298-63insAAAGAAGA