Canonical Allele Identifier: CA1483969734

Gene: HADH

Linked Data

• dbSNP Id: rs1736120746

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027962del , CM000666.2:g.108027962del	GRCh38
NC_000004.11:g.108949118del , CM000666.1:g.108949118del	GRCh37
NC_000004.10:g.109168567del	NCBI36
NG_008156.2:g.43179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5121del
ENST00000510728.6:n.1721del
ENST00000514776.3:n.344del
ENST00000515462.7:n.2098del
ENST00000626637.2:c.721+202del	ENSP00000486771.1:n.721+202del
ENST00000638648.2:c.745del	ENSP00000507949.1:p.Leu249SerfsTer26
ENST00000640201.2:n.997del
ENST00000640752.2:n.4919+202del
ENST00000682067.1:c.542+202del
ENST00000682086.1:n.980del
ENST00000682373.1:c.368+202del
ENST00000684696.1:c.660del	ENSP00000507675.1:p.Ser221LeufsTer?
ENST00000309522.8:c.709+202del MANE Select	ENSP00000312288.4:n.709+202del
ENST00000403312.6:c.709+202del	ENSP00000385638.3:n.709+202del
ENST00000505878.4:c.886+202del	ENSP00000425952.2:n.886+202del
ENST00000514776.2:n.344del
ENST00000515462.6:n.2098del
ENST00000638559.1:c.567+202del
ENST00000638621.1:c.295+202del	ENSP00000491581.1:n.295+202del
ENST00000638648.1:n.860+202del
ENST00000639146.1:c.733del	ENSP00000492345.1:p.Leu245SerfsTer26
ENST00000639335.1:c.*144+202del	ENSP00000491310.1:n.*144+202del
ENST00000639698.1:c.516+4399del	ENSP00000492420.1:n.516+4399del
ENST00000639784.1:c.373+4399del
ENST00000640048.1:c.681+202del	ENSP00000492009.1:n.681+202del
ENST00000640060.1:c.*804+202del	ENSP00000492734.1:n.*804+202del
ENST00000640201.1:n.866del
ENST00000640752.1:n.4912+202del
ENST00000309522.7:c.709+202del	ENSP00000312288.3:n.709+202del
ENST00000403312.5:c.886+202del	ENSP00000385638.2:n.886+202del
ENST00000505878.3:c.721+202del	ENSP00000425952.1:n.721+202del
ENST00000510728.5:n.273del
ENST00000515462.5:n.248del
ENST00000603302.5:c.709+202del	ENSP00000474560.1:n.709+202del
ENST00000626637.1:c.721+202del	ENSP00000486771.1:n.721+202del
NM_001184705.2:c.709+202del	NP_001171634.2:n.709+202del
NM_005327.4:c.709+202del	NP_005318.3:n.709+202del
XM_005262972.1:c.721+202del	XP_005263029.1:n.721+202del
XR_938726.1:n.1060del
NM_001331027.1:c.721+202del	NP_001317956.1:n.721+202del
XR_001741214.2:n.827del
XR_002959727.1:n.1005del
NM_001184705.3:c.709+202del	NP_001171634.2:n.709+202del
NM_005327.7:c.709+202del MANE Select	NP_005318.6:n.709+202del
NM_001184705.4:c.709+202del	NP_001171634.3:n.709+202del
NM_001331027.2:c.721+202del	NP_001317956.2:n.721+202del