×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA588494254
Gene: ALDH1A1
HGNC
NCBI
Linked Data
dbSNP Id:
rs6151031
gnomAD v2:
9-75568383-G-GCTGGTCAGGAGAGAACC
gnomAD v3:
9-72953467-G-GCTGGTCAGGAGAGAACC
gnomAD v4:
9-72953467-G-GCTGGTCAGGAGAGAACC
MyVariant Identifiers:
chr9:g.75568383_75568384insCTGGTCAGGAGAGAACC (hg19)
chr9:g.72953467_72953468insCTGGTCAGGAGAGAACC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.72953471_72953472insTCAGGAGAGAACCCTGG , CM000671.2:g.72953471_72953472insTCAGGAGAGAACCCTGG
GRCh38
NC_000009.11:g.75568387_75568388insTCAGGAGAGAACCCTGG , CM000671.1:g.75568387_75568388insTCAGGAGAGAACCCTGG
GRCh37
NC_000009.10:g.74758207_74758208insTCAGGAGAGAACCCTGG
NCBI36
NG_012249.1:g.4586_4587insGGTTCTCTCCTGACCAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000419959.5:c.-14-454_-14-453insGGTTCTCTCCTGACCAG
ENSP00000388026.1:n.-14-454_-14-453insGGT...
ENST00000446946.1:c.-14-454_-14-453insGGTTCTCTCCTGACCAG
ENSP00000401361.1:n.-14-454_-14-453insGGT...
Search 100 bp 5'
Search 100 bp 3'