×
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:
CA7659950
Gene: CYP1A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs766244237
ExAC:
15:75044206 GC / G
gnomAD v2:
15-75044206-GC-G
gnomAD v4:
15-74751865-GC-G
MyVariant Identifiers:
chr15:g.75044207del (hg19)
chr15:g.74751866del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74751870del , CM000677.2:g.74751870del
GRCh38
NC_000015.9:g.75044211del , CM000677.1:g.75044211del
GRCh37
NC_000015.8:g.72831264del
NCBI36
NG_008431.1:g.34329del
NG_008431.2:g.34329del
NG_061543.1:g.8026del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000343932.5:c.1042+16del
MANE Select
ENSP00000342007.4:n.1042+16del
ENST00000343932.4:c.1042+16del
ENSP00000342007.4:n.1042+16del
NM_000761.4:c.1042+16del
NP_000752.2:n.1042+16del
NM_000761.5:c.1042+16del
MANE Select
NP_000752.2:n.1042+16del
Search 100 bp 5'
Search 100 bp 3'