Canonical Allele Identifier: CA650263491
Gene: ALDH7A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126544897_126544898insC , CM000667.2:g.126544897_126544898insC GRCh38
NC_000005.9:g.125880589_125880590insC , CM000667.1:g.125880589_125880590insC GRCh37
NC_000005.8:g.125908488_125908489insC NCBI36
NG_008600.2:g.55493_55494insG
NG_008600.3:g.55493_55494insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000409134.8:c.*67_*68insG MANE Select ENSP00000387123.3:n.*67_*68insG
ENST00000458249.6:c.*1596_*1597insG ENSP00000403929.1:n.*1596_*1597insG
ENST00000485852.7:n.434_435insG
ENST00000497231.7:n.2114_2115insG
ENST00000635851.1:c.1563+1426_1563+1427insG
ENST00000636482.1:n.1221_1222insG
ENST00000636743.1:c.*67_*68insG ENSP00000489725.1:n.*67_*68insG
ENST00000636808.1:c.*1496_*1497insG ENSP00000490833.1:n.*1496_*1497insG
ENST00000636872.1:c.1847_1848insG ENSP00000490919.1:n.1847_1848insG
ENST00000636879.1:c.*67_*68insG ENSP00000490811.1:n.*67_*68insG
ENST00000636886.1:c.*67_*68insG ENSP00000490371.1:n.*67_*68insG
ENST00000637206.1:c.*67_*68insG ENSP00000489895.1:n.*67_*68insG
ENST00000637272.1:c.*67_*68insG ENSP00000489686.1:n.*67_*68insG
ENST00000637292.1:c.1143_1144insG
ENST00000637782.1:c.1565+1426_1565+1427insG ENSP00000490024.1:n.1565+1426_1565+1427insG
ENST00000638008.1:c.*1531_*1532insG ENSP00000490400.1:n.*1531_*1532insG
ENST00000638010.1:n.1633_1634insG
ENST00000409134.7:c.*67_*68insG ENSP00000387123.3:n.*67_*68insG
ENST00000447989.6:c.*67_*68insG ENSP00000414132.2:n.*67_*68insG
ENST00000485852.6:n.434_435insG
ENST00000497231.6:n.1897_1898insG
ENST00000553117.5:c.*67_*68insG ENSP00000448593.1:n.*67_*68insG
NM_001182.4:c.*67_*68insG NP_001173.2:n.*67_*68insG
NM_001201377.1:c.*67_*68insG NP_001188306.1:n.*67_*68insG
NM_001202404.1:c.*67_*68insG NP_001189333.1:n.*67_*68insG
XM_011543417.1:c.*67_*68insG XP_011541719.1:n.*67_*68insG
XM_011543417.2:c.*67_*68insG XP_011541719.1:n.*67_*68insG
NM_001182.5:c.*67_*68insG MANE Select NP_001173.2:n.*67_*68insG
NM_001201377.2:c.*67_*68insG NP_001188306.1:n.*67_*68insG
NM_001202404.2:c.*67_*68insG NP_001189333.2:n.*67_*68insG