Canonical Allele Identifier: CA2658211365

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26193573-TCACCTAGGAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193575_26193585del , CM000664.2:g.26193575_26193585del	GRCh38
NC_000002.11:g.26416444_26416454del , CM000664.1:g.26416444_26416454del	GRCh37
NC_000002.10:g.26269948_26269958del	NCBI36
NG_007121.1:g.56037_56047del
NG_007121.2:g.56038_56048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1878_1885+3del (HADHA)
ENST00000492433.2:c.1878_1885+3del (HADHA)
ENST00000643057.1:c.*1769_*1776+3del (HADHA)
ENST00000643063.1:c.*924_*931+3del (HADHA)
ENST00000643233.1:c.*1769_*1776+3del (HADHA)
ENST00000644428.1:c.*502_*509+3del (HADHA)
ENST00000645274.1:c.1773_1780+3del (HADHA)
ENST00000646031.1:c.1237_1244+3del (HADHA)
ENST00000646483.1:c.1744_1751+3del (HADHA)
ENST00000380649.7:c.1878_1885+3del (HADHA)
ENST00000492433.1:c.336_343+3del (HADHA)
NM_000182.4:c.1878_1885+3del (HADHA)
XM_011532567.1:c.1683+6260_1683+6270del (GAREM2)	XP_011530869.1:n.1683+6260_1683+6270del
XM_011532567.3:c.1683+6260_1683+6270del (GAREM2)	XP_011530869.1:n.1683+6260_1683+6270del
NM_000182.5:c.1878_1885+3del (HADHA)