Canonical Allele Identifier: CA800726316

Gene: ADH1B

Linked Data

• dbSNP Id: rs1435442794
• MyVariant Identifiers: chr4:g.100228987_100228998del (hg19) ; chr4:g.99307830_99307841del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99307830_99307841del , CM000666.2:g.99307830_99307841del	GRCh38
NC_000004.11:g.100228987_100228998del , CM000666.1:g.100228987_100228998del	GRCh37
NC_000004.10:g.100448010_100448021del	NCBI36
NG_011435.1:g.18575_18586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.1127_*10del MANE Select	ENSP00000306606.8:n.[c.1127_*10del;Ter376TyrextTer21]
ENST00000305046.12:c.1127_*10del	ENSP00000306606.8:n.[c.1127_*10del;Ter376TyrextTer21]
ENST00000506651.5:c.1007_*10del	ENSP00000425998.2:n.[c.1007_*10del;Ter336TyrextTer21]
ENST00000515694.4:n.3222_3233del
ENST00000625860.2:c.1007_*10del	ENSP00000486614.1:n.[c.1007_*10del;Ter336TyrextTer21]
NM_000668.5:c.1127_*10del	NP_000659.2:n.[c.1127_*10del;Ter376TyrextTer21]
NM_001286650.1:c.1007_*10del	NP_001273579.1:n.[c.1007_*10del;Ter336TyrextTer21]
NM_000668.6:c.1127_*10del MANE Select	NP_000659.2:n.[c.1127_*10del;Ter376TyrextTer21]
NM_001286650.2:c.1007_*10del	NP_001273579.1:n.[c.1007_*10del;Ter336TyrextTer21]