Canonical Allele Identifier: CA1081237072

Gene: ALDH7A1

Linked Data

• gnomAD v3: 5-126577020-T-TGAGCAGGTCTTACCAGAGGCAGACATTTCCACAG
• gnomAD v4: 5-126577020-T-TGAGCAGGTCTTACCAGAGGCAGACATTTCCACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577020_126577021insGAGCAGGTCTTACCAGAGGCAGACATTTCCACAG , CM000667.2:g.126577020_126577021insGAGCAGGTCTTACCAGAGGCAGACATTTCCACAG	GRCh38
NC_000005.9:g.125912712_125912713insGAGCAGGTCTTACCAGAGGCAGACATTTCCACAG , CM000667.1:g.125912712_125912713insGAGCAGGTCTTACCAGAGGCAGACATTTCCACAG	GRCh37
NC_000005.8:g.125940611_125940612insGAGCAGGTCTTACCAGAGGCAGACATTTCCACAG	NCBI36
NG_008600.2:g.23370_23371insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
NG_008600.3:g.23370_23371insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC MANE Select	ENSP00000387123.3:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000412186.2:c.526+58_526+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000414536.2:n.526+58_526+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000413020.6:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000487936.1:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000458249.6:c.*559+58_*559+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000403929.1:n.*559+58_*559+59insCTGTGGAAATGTCTGCCTCTGGT...
ENST00000503281.6:c.239+58_239+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000509459.6:c.198+58_198+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000511266.6:n.1372+58_1372+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000635851.1:c.648+58_648+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000636062.1:n.545+58_545+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000636225.1:c.*459+58_*459+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000490797.1:n.*459+58_*459+59insCTGTGGAAATGTCTGCCTCTGGT...
ENST00000636286.1:n.368+58_368+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000636743.1:c.530+58_530+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000489725.1:n.530+58_530+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000636808.1:c.*459+58_*459+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000490833.1:n.*459+58_*459+59insCTGTGGAAATGTCTGCCTCTGGT...
ENST00000636872.1:c.810+58_810+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000490919.1:n.810+58_810+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000636879.1:c.695+58_695+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000490811.1:n.695+58_695+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000636886.1:c.449+58_449+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000490371.1:n.449+58_449+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000637206.1:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000489895.1:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000637272.1:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000489686.1:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000637292.1:c.303+58_303+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000637782.1:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000490024.1:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000637964.1:c.596+58_596+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000490291.1:n.596+58_596+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000638008.1:c.*592+58_*592+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000490400.1:n.*592+58_*592+59insCTGTGGAAATGTCTGCCTCTGGT...
ENST00000409134.7:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000387123.3:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000413020.5:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000487936.1:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000433026.5:n.177+58_177+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000447989.6:c.731+58_731+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000414132.2:n.731+58_731+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000458249.5:c.810+58_810+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000403929.1:n.810+58_810+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000503281.5:c.239+58_239+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000509459.5:c.198+58_198+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000510111.6:c.563+58_563+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000447388.1:n.563+58_563+59insCTGTGGAAATGTCTGCCTCTGGTAA...
ENST00000511266.5:n.481+58_481+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC
ENST00000553117.5:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	ENSP00000448593.1:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAA...
NM_001182.4:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	NP_001173.2:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTG...
NM_001201377.1:c.566+58_566+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	NP_001188306.1:n.566+58_566+59insCTGTGGAAATGTCTGCCTCTGGTAAGAC...
NM_001202404.1:c.731+58_731+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	NP_001189333.1:n.731+58_731+59insCTGTGGAAATGTCTGCCTCTGGTAAGAC...
XM_011543417.1:c.245+58_245+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	XP_011541719.1:n.245+58_245+59insCTGTGGAAATGTCTGCCTCTGGTAAGAC...
XM_011543417.2:c.245+58_245+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	XP_011541719.1:n.245+58_245+59insCTGTGGAAATGTCTGCCTCTGGTAAGAC...
NM_001182.5:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC MANE Select	NP_001173.2:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTG...
NM_001201377.2:c.566+58_566+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	NP_001188306.1:n.566+58_566+59insCTGTGGAAATGTCTGCCTCTGGTAAGAC...
NM_001202404.2:c.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGACCTGCTC	NP_001189333.2:n.650+58_650+59insCTGTGGAAATGTCTGCCTCTGGTAAGAC...