Canonical Allele Identifier: CA3389452

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs766138477
• ExAC: 5:125887667 TATC / T
• gnomAD v2: 5-125887667-TATC-T
• gnomAD v3: 5-126551975-TATC-T
• gnomAD v4: 5-126551975-TATC-T
• MyVariant Identifiers: chr5:g.125887668_125887670del (hg19) ; chr5:g.126551976_126551978del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126551978_126551980del , CM000667.2:g.126551978_126551980del	GRCh38
NC_000005.9:g.125887670_125887672del , CM000667.1:g.125887670_125887672del	GRCh37
NC_000005.8:g.125915569_125915571del	NCBI36
NG_008600.2:g.48413_48415del
NG_008600.3:g.48413_48415del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1317+43_1317+45del MANE Select	ENSP00000387123.3:n.1317+43_1317+45del
ENST00000458249.6:c.*1226+43_*1226+45del	ENSP00000403929.1:n.*1226+43_*1226+45del
ENST00000497231.7:n.1744+43_1744+45del
ENST00000503281.6:c.906+43_906+45del
ENST00000635851.1:c.1315+43_1315+45del
ENST00000636062.1:n.1212+43_1212+45del
ENST00000636225.1:c.*1261+43_*1261+45del	ENSP00000490797.1:n.*1261+43_*1261+45del
ENST00000636286.1:n.1035+43_1035+45del
ENST00000636482.1:n.804+43_804+45del
ENST00000636743.1:c.1197+43_1197+45del	ENSP00000489725.1:n.1197+43_1197+45del
ENST00000636808.1:c.*1126+43_*1126+45del	ENSP00000490833.1:n.*1126+43_*1126+45del
ENST00000636872.1:c.1477+43_1477+45del	ENSP00000490919.1:n.1477+43_1477+45del
ENST00000636879.1:c.1362+43_1362+45del	ENSP00000490811.1:n.1362+43_1362+45del
ENST00000636886.1:c.1116+43_1116+45del	ENSP00000490371.1:n.1116+43_1116+45del
ENST00000637206.1:c.1137+43_1137+45del	ENSP00000489895.1:n.1137+43_1137+45del
ENST00000637272.1:c.1308+43_1308+45del	ENSP00000489686.1:n.1308+43_1308+45del
ENST00000637292.1:c.774-1685_774-1683del
ENST00000637782.1:c.1317+43_1317+45del	ENSP00000490024.1:n.1317+43_1317+45del
ENST00000638008.1:c.*1161+43_*1161+45del	ENSP00000490400.1:n.*1161+43_*1161+45del
ENST00000638010.1:n.1263+43_1263+45del
ENST00000409134.7:c.1317+43_1317+45del	ENSP00000387123.3:n.1317+43_1317+45del
ENST00000447989.6:c.1206+43_1206+45del	ENSP00000414132.2:n.1206+43_1206+45del
ENST00000476328.1:n.82+43_82+45del
ENST00000497231.6:n.1527+43_1527+45del
ENST00000553117.5:c.1125+43_1125+45del	ENSP00000448593.1:n.1125+43_1125+45del
NM_001182.4:c.1317+43_1317+45del	NP_001173.2:n.1317+43_1317+45del
NM_001201377.1:c.1233+43_1233+45del	NP_001188306.1:n.1233+43_1233+45del
NM_001202404.1:c.1206+43_1206+45del	NP_001189333.1:n.1206+43_1206+45del
XM_011543417.1:c.912+43_912+45del	XP_011541719.1:n.912+43_912+45del
XM_011543417.2:c.912+43_912+45del	XP_011541719.1:n.912+43_912+45del
NM_001182.5:c.1317+43_1317+45del MANE Select	NP_001173.2:n.1317+43_1317+45del
NM_001201377.2:c.1233+43_1233+45del	NP_001188306.1:n.1233+43_1233+45del
NM_001202404.2:c.1125+43_1125+45del	NP_001189333.2:n.1125+43_1125+45del