Canonical Allele Identifier: CA102880203

Gene: HADH

Linked Data

• dbSNP Id: rs35407981
• MyVariant Identifiers: chr4:g.108949140_108949141insCC (hg19) ; chr4:g.108027984_108027985insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027986_108027987dup , CM000666.2:g.108027986_108027987dup	GRCh38
NC_000004.11:g.108949142_108949143dup , CM000666.1:g.108949142_108949143dup	GRCh37
NC_000004.10:g.109168591_109168592dup	NCBI36
NG_008156.2:g.43203_43204dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5145_5146dup
ENST00000510728.6:n.1745_1746dup
ENST00000514776.3:n.368_369dup
ENST00000515462.7:n.2122_2123dup
ENST00000626637.2:c.721+226_721+227dup	ENSP00000486771.1:n.721+226_721+227dup
ENST00000638648.2:c.*19_*20dup	ENSP00000507949.1:n.*19_*20dup
ENST00000640201.2:n.1021_1022dup
ENST00000640752.2:n.4919+226_4919+227dup
ENST00000682067.1:c.542+226_542+227dup
ENST00000682086.1:n.1004_1005dup
ENST00000682373.1:c.368+226_368+227dup
ENST00000684696.1:c.684_685dup	ENSP00000507675.1:p.His229ProfsTer26
ENST00000309522.8:c.709+226_709+227dup MANE Select	ENSP00000312288.4:n.709+226_709+227dup
ENST00000403312.6:c.709+226_709+227dup	ENSP00000385638.3:n.709+226_709+227dup
ENST00000505878.4:c.886+226_886+227dup	ENSP00000425952.2:n.886+226_886+227dup
ENST00000514776.2:n.368_369dup
ENST00000515462.6:n.2122_2123dup
ENST00000638559.1:c.567+226_567+227dup
ENST00000638621.1:c.295+226_295+227dup	ENSP00000491581.1:n.295+226_295+227dup
ENST00000638648.1:n.860+226_860+227dup
ENST00000639146.1:c.*19_*20dup	ENSP00000492345.1:n.*19_*20dup
ENST00000639335.1:c.*144+226_*144+227dup	ENSP00000491310.1:n.*144+226_*144+227dup
ENST00000639698.1:c.516+4423_516+4424dup	ENSP00000492420.1:n.516+4423_516+4424dup
ENST00000639784.1:c.373+4423_373+4424dup
ENST00000640048.1:c.681+226_681+227dup	ENSP00000492009.1:n.681+226_681+227dup
ENST00000640060.1:c.*804+226_*804+227dup	ENSP00000492734.1:n.*804+226_*804+227dup
ENST00000640201.1:n.890_891dup
ENST00000640752.1:n.4912+226_4912+227dup
ENST00000309522.7:c.709+226_709+227dup	ENSP00000312288.3:n.709+226_709+227dup
ENST00000403312.5:c.886+226_886+227dup	ENSP00000385638.2:n.886+226_886+227dup
ENST00000505878.3:c.721+226_721+227dup	ENSP00000425952.1:n.721+226_721+227dup
ENST00000510728.5:n.297_298dup
ENST00000515462.5:n.272_273dup
ENST00000603302.5:c.709+226_709+227dup	ENSP00000474560.1:n.709+226_709+227dup
ENST00000626637.1:c.721+226_721+227dup	ENSP00000486771.1:n.721+226_721+227dup
NM_001184705.2:c.709+226_709+227dup	NP_001171634.2:n.709+226_709+227dup
NM_005327.4:c.709+226_709+227dup	NP_005318.3:n.709+226_709+227dup
XM_005262972.1:c.721+226_721+227dup	XP_005263029.1:n.721+226_721+227dup
XR_938726.1:n.1084_1085dup
NM_001331027.1:c.721+226_721+227dup	NP_001317956.1:n.721+226_721+227dup
XR_001741214.2:n.851_852dup
XR_002959727.1:n.1029_1030dup
NM_001184705.3:c.709+226_709+227dup	NP_001171634.2:n.709+226_709+227dup
NM_005327.7:c.709+226_709+227dup MANE Select	NP_005318.6:n.709+226_709+227dup
NM_001184705.4:c.709+226_709+227dup	NP_001171634.3:n.709+226_709+227dup
NM_001331027.2:c.721+226_721+227dup	NP_001317956.2:n.721+226_721+227dup