Canonical Allele Identifier: CA2675066299

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126544848-AGTCACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544854_126544859del , CM000667.2:g.126544854_126544859del	GRCh38
NC_000005.9:g.125880546_125880551del , CM000667.1:g.125880546_125880551del	GRCh37
NC_000005.8:g.125908445_125908450del	NCBI36
NG_008600.2:g.55537_55542del
NG_008600.3:g.55537_55542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*111_*116del MANE Select	ENSP00000387123.3:n.*111_*116del
ENST00000458249.6:c.*1640_*1645del	ENSP00000403929.1:n.*1640_*1645del
ENST00000485852.7:n.478_483del
ENST00000497231.7:n.2158_2163del
ENST00000635851.1:c.1563+1470_1563+1475del
ENST00000636482.1:n.1265_1270del
ENST00000636743.1:c.*111_*116del	ENSP00000489725.1:n.*111_*116del
ENST00000636808.1:c.*1540_*1545del	ENSP00000490833.1:n.*1540_*1545del
ENST00000636872.1:c.1891_1896del	ENSP00000490919.1:n.1891_1896del
ENST00000636879.1:c.*111_*116del	ENSP00000490811.1:n.*111_*116del
ENST00000636886.1:c.*111_*116del	ENSP00000490371.1:n.*111_*116del
ENST00000637206.1:c.*111_*116del	ENSP00000489895.1:n.*111_*116del
ENST00000637272.1:c.*111_*116del	ENSP00000489686.1:n.*111_*116del
ENST00000637292.1:c.1187_1192del
ENST00000637782.1:c.1565+1470_1565+1475del	ENSP00000490024.1:n.1565+1470_1565+1475del
ENST00000638008.1:c.*1575_*1580del	ENSP00000490400.1:n.*1575_*1580del
ENST00000638010.1:n.1677_1682del
ENST00000409134.7:c.*111_*116del	ENSP00000387123.3:n.*111_*116del
ENST00000447989.6:c.*111_*116del	ENSP00000414132.2:n.*111_*116del
ENST00000485852.6:n.478_483del
ENST00000497231.6:n.1941_1946del
ENST00000553117.5:c.*111_*116del	ENSP00000448593.1:n.*111_*116del
NM_001182.4:c.*111_*116del	NP_001173.2:n.*111_*116del
NM_001201377.1:c.*111_*116del	NP_001188306.1:n.*111_*116del
NM_001202404.1:c.*111_*116del	NP_001189333.1:n.*111_*116del
XM_011543417.1:c.*111_*116del	XP_011541719.1:n.*111_*116del
XM_011543417.2:c.*111_*116del	XP_011541719.1:n.*111_*116del
NM_001182.5:c.*111_*116del MANE Select	NP_001173.2:n.*111_*116del
NM_001201377.2:c.*111_*116del	NP_001188306.1:n.*111_*116del
NM_001202404.2:c.*111_*116del	NP_001189333.2:n.*111_*116del