Canonical Allele Identifier: CA531392415
Gene: HADHA HGNC NCBI

Linked Data

dbSNP Id: rs1256877025
gnomAD v2: 2-26426924-G-GGCTTACCCTTTGAACACTTGTTGCTGTCCTCGGTCTA
gnomAD v3: 2-26204055-G-GGCTTACCCTTTGAACACTTGTTGCTGTCCTCGGTCTA
gnomAD v4: 2-26204055-G-GGCTTACCCTTTGAACACTTGTTGCTGTCCTCGGTCTA
MyVariant Identifiers: chr2:g.26426924_26426925insGCTTACCCTTTGAACACTTGTTGCTGTCCTCGGTCTA (hg19) chr2:g.26204055_26204056insGCTTACCCTTTGAACACTTGTTGCTGTCCTCGGTCTA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204058_26204094dup , CM000664.2:g.26204058_26204094dup GRCh38
NC_000002.11:g.26426927_26426963dup , CM000664.1:g.26426927_26426963dup GRCh37
NC_000002.10:g.26280431_26280467dup NCBI36
NG_007121.1:g.45529_45565dup
NG_007121.2:g.45530_45566dup

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.1190_1220+6dup
ENST00000492433.2:c.1190_1220+6dup
ENST00000643057.1:c.*1081_*1111+6dup
ENST00000643063.1:c.*236_*266+6dup
ENST00000643233.1:c.*1081_*1111+6dup
ENST00000644428.1:c.1190_1220+6dup
ENST00000645274.1:c.1085_1115+6dup
ENST00000646031.1:c.549_579+6dup
ENST00000646483.1:c.1056_1086+6dup
ENST00000380649.7:c.1190_1220+6dup
NM_000182.4:c.1190_1220+6dup
NM_000182.5:c.1190_1220+6dup
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