Canonical Allele Identifier: CA553096268

Gene: ADH4

Linked Data

• dbSNP Id: rs1279192856
• gnomAD v2: 4-100055514-TTTAA-T
• gnomAD v3: 4-99134363-TTTAA-T
• gnomAD v4: 4-99134363-TTTAA-T
• MyVariant Identifiers: chr4:g.100055515_100055518del (hg19) ; chr4:g.99134364_99134367del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99134367_99134370del , CM000666.2:g.99134367_99134370del	GRCh38
NC_000004.11:g.100055518_100055521del , CM000666.1:g.100055518_100055521del	GRCh37
NC_000004.10:g.100274541_100274544del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000265512.12:c.582+2099_582+2102del MANE Select	ENSP00000265512.7:n.582+2099_582+2102del
ENST00000265512.11:c.582+2099_582+2102del	ENSP00000265512.7:n.582+2099_582+2102del
ENST00000503416.5:n.595+2099_595+2102del
ENST00000504125.1:c.528+2099_528+2102del	ENSP00000427525.1:n.528+2099_528+2102del
ENST00000505590.5:c.639+2099_639+2102del	ENSP00000425416.1:n.639+2099_639+2102del
ENST00000506705.5:c.*556+2099_*556+2102del	ENSP00000426667.1:n.*556+2099_*556+2102de...
ENST00000508393.5:c.639+2099_639+2102del	ENSP00000424630.1:n.639+2099_639+2102del
ENST00000509471.5:c.72+2099_72+2102del	ENSP00000424583.1:n.72+2099_72+2102del
ENST00000512499.5:c.639+2099_639+2102del	ENSP00000423571.1:n.639+2099_639+2102del
ENST00000629236.2:c.582+2099_582+2102del	ENSP00000486450.1:n.582+2099_582+2102del
NM_000670.3:c.582+2099_582+2102del	NP_000661.2:n.582+2099_582+2102del
NM_000670.4:c.582+2099_582+2102del	NP_000661.2:n.582+2099_582+2102del
NM_001306171.1:c.639+2099_639+2102del	NP_001293100.1:n.639+2099_639+2102del
NM_001306172.1:c.639+2099_639+2102del	NP_001293101.1:n.639+2099_639+2102del
NR_037884.1:n.679+562_679+565del
XR_938685.1:n.810+2099_810+2102del
XR_938686.1:n.801+2099_801+2102del
XR_938687.1:n.674+2099_674+2102del
NM_000670.5:c.582+2099_582+2102del MANE Select	NP_000661.2:n.582+2099_582+2102del
NM_001306171.2:c.639+2099_639+2102del	NP_001293100.1:n.639+2099_639+2102del
NM_001306172.2:c.639+2099_639+2102del	NP_001293101.1:n.639+2099_639+2102del