Canonical Allele Identifier: CA193461987
Gene: ALDH1A1 HGNC NCBI

Linked Data

dbSNP Id: rs6151031
gnomAD v2: 9-75568383-G-GCTGGTGAGGAGAGAACC
gnomAD v3: 9-72953467-G-GCTGGTGAGGAGAGAACC
gnomAD v4: 9-72953467-G-GCTGGTGAGGAGAGAACC
MyVariant Identifiers: chr9:g.75568383_75568384insCTGGTGAGGAGAGAACC (hg19) chr9:g.72953467_72953468insCTGGTGAGGAGAGAACC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72953471_72953472insTGAGGAGAGAACCCTGG , CM000671.2:g.72953471_72953472insTGAGGAGAGAACCCTGG GRCh38
NC_000009.11:g.75568387_75568388insTGAGGAGAGAACCCTGG , CM000671.1:g.75568387_75568388insTGAGGAGAGAACCCTGG GRCh37
NC_000009.10:g.74758207_74758208insTGAGGAGAGAACCCTGG NCBI36
NG_012249.1:g.4586_4587insGGTTCTCTCCTCACCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000419959.5:c.-14-454_-14-453insGGTTCTCTCCTCACCAG ENSP00000388026.1:n.-14-454_-14-453insGGT...
ENST00000446946.1:c.-14-454_-14-453insGGTTCTCTCCTCACCAG ENSP00000401361.1:n.-14-454_-14-453insGGT...
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