Canonical Allele Identifier: CA2739270208

Gene: HADH

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.107989996del , CM000666.2:g.107989996del	GRCh38
NC_000004.11:g.108911152del , CM000666.1:g.108911152del	GRCh37
NC_000004.10:g.109130601del	NCBI36
NG_008156.2:g.5213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.150del
ENST00000640201.2:n.150del
ENST00000640752.2:n.150del
ENST00000681992.1:n.101del
ENST00000682197.1:n.148del
ENST00000682373.1:c.8del
ENST00000684696.1:c.64del	ENSP00000507675.1:p.Ala22ProfsTer4
ENST00000309522.8:c.64del MANE Select	ENSP00000312288.4:p.Ala22ProfsTer4
ENST00000403312.6:c.64del	ENSP00000385638.3:p.Ala22ProfsTer4
ENST00000505878.4:c.241del	ENSP00000425952.2:p.Ala81ProfsTer4
ENST00000507260.2:n.107del
ENST00000638559.1:c.51del
ENST00000638621.1:c.64del	ENSP00000491581.1:p.Ala22ProfsTer4
ENST00000639013.1:n.139del
ENST00000639146.1:c.64del	ENSP00000492345.1:p.Ala22ProfsTer4
ENST00000639335.1:c.64del	ENSP00000491310.1:p.Ala22ProfsTer4
ENST00000640060.1:c.64del	ENSP00000492734.1:p.Ala22ProfsTer4
ENST00000640201.1:n.19del
ENST00000640752.1:n.143del
ENST00000309522.7:c.64del	ENSP00000312288.3:p.Ala22ProfsTer4
ENST00000403312.5:c.241del	ENSP00000385638.2:p.Ala81ProfsTer4
ENST00000505878.3:c.-179del	ENSP00000425952.1:n.-179del
ENST00000511742.1:c.64del	ENSP00000425254.1:p.Ala22ProfsTer4
ENST00000603302.5:c.64del	ENSP00000474560.1:p.Ala22ProfsTer4
NM_001184705.2:c.64del	NP_001171634.2:p.Ala22ProfsTer4
NM_005327.4:c.64del	NP_005318.3:p.Ala22ProfsTer4
XR_938726.1:n.213del
XR_001741214.2:n.158del
XR_002959727.1:n.158del
NM_001184705.3:c.64del	NP_001171634.2:p.Ala22ProfsTer4
NM_005327.7:c.64del MANE Select	NP_005318.6:p.Ala22ProfsTer4
NM_001184705.4:c.64del	NP_001171634.3:p.Ala22ProfsTer4