Canonical Allele Identifier: CA951863109
Gene: ALDH2 HGNC NCBI

Linked Data

gnomAD v3: 12-111776698-ATTT-A
gnomAD v4: 12-111776698-ATTT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111776710_111776712del , CM000674.2:g.111776710_111776712del GRCh38
NC_000012.11:g.112214514_112214516del , CM000674.1:g.112214514_112214516del GRCh37
NC_000012.10:g.110698897_110698899del NCBI36
NG_012250.1:g.15169_15171del
NG_012250.2:g.14824_14826del

Transcript Alleles

HGVS Amino-acid change
ENST00000261733.7:c.115-5208_115-5206del MANE Select ENSP00000261733.2:n.115-5208_115-5206del
ENST00000546840.3:c.105-5208_105-5206del
ENST00000261733.6:c.115-5208_115-5206del ENSP00000261733.2:n.115-5208_115-5206del
ENST00000416293.7:c.115-5208_115-5206del ENSP00000403349.3:n.115-5208_115-5206del
ENST00000546840.2:c.100-5208_100-5206del ENSP00000450353.3:n.100-5208_100-5206del
ENST00000548536.1:c.230+990_230+992del ENSP00000448179.1:n.230+990_230+992del
NM_000690.3:c.115-5208_115-5206del NP_000681.2:n.115-5208_115-5206del
NM_001204889.1:c.115-5208_115-5206del NP_001191818.1:n.115-5208_115-5206del
NM_000690.4:c.115-5208_115-5206del MANE Select NP_000681.2:n.115-5208_115-5206del
NM_001204889.2:c.115-5208_115-5206del NP_001191818.1:n.115-5208_115-5206del
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