Canonical Allele Identifier: CA767263912

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1449401074
• MyVariant Identifiers: chr2:g.26415450_26415451del (hg19) ; chr2:g.26192581_26192582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192582_26192583del , CM000664.2:g.26192582_26192583del	GRCh38
NC_000002.11:g.26415451_26415452del , CM000664.1:g.26415451_26415452del	GRCh37
NC_000002.10:g.26268955_26268956del	NCBI36
NG_007121.1:g.57039_57040del
NG_007121.2:g.57040_57041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1886-158_1886-157del (HADHA) MANE Select	ENSP00000370023.3:n.1886-158_1886-157del
ENST00000492433.2:c.1886-158_1886-157del (HADHA)	ENSP00000438039.2:n.1886-158_1886-157del
ENST00000643057.1:c.*1777-158_*1777-157del (HADHA)	ENSP00000493761.1:n.*1777-158_*1777-157del
ENST00000643063.1:c.*932-158_*932-157del (HADHA)	ENSP00000495353.1:n.*932-158_*932-157del
ENST00000643233.1:c.*1777-158_*1777-157del (HADHA)	ENSP00000493880.1:n.*1777-158_*1777-157del
ENST00000644428.1:c.*510-158_*510-157del (HADHA)	ENSP00000495560.1:n.*510-158_*510-157del
ENST00000645274.1:c.1781-158_1781-157del (HADHA)	ENSP00000493996.1:n.1781-158_1781-157del
ENST00000646031.1:c.1245-158_1245-157del (HADHA)
ENST00000646483.1:c.1752-158_1752-157del (HADHA)	ENSP00000496185.1:n.1752-158_1752-157del
ENST00000380649.7:c.1886-158_1886-157del (HADHA)	ENSP00000370023.3:n.1886-158_1886-157del
ENST00000492433.1:c.344-158_344-157del (HADHA)	ENSP00000438039.1:n.344-158_344-157del
NM_000182.4:c.1886-158_1886-157del (HADHA)	NP_000173.2:n.1886-158_1886-157del
XM_011532567.1:c.1683+5267_1683+5268del (GAREM2)	XP_011530869.1:n.1683+5267_1683+5268del
XM_011532567.3:c.1683+5267_1683+5268del (GAREM2)	XP_011530869.1:n.1683+5267_1683+5268del
NM_000182.5:c.1886-158_1886-157del (HADHA) MANE Select	NP_000173.2:n.1886-158_1886-157del