Canonical Allele Identifier: CA785077013

Gene: HADH

Linked Data

• dbSNP Id: rs1193992659
• gnomAD v3: 4-108027968-GAA-G
• gnomAD v4: 4-108027968-GAA-G
• MyVariant Identifiers: chr4:g.108949125_108949126del (hg19) ; chr4:g.108027969_108027970del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027970_108027971del , CM000666.2:g.108027970_108027971del	GRCh38
NC_000004.11:g.108949126_108949127del , CM000666.1:g.108949126_108949127del	GRCh37
NC_000004.10:g.109168575_109168576del	NCBI36
NG_008156.2:g.43187_43188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5129_5130del
ENST00000510728.6:n.1729_1730del
ENST00000514776.3:n.352_353del
ENST00000515462.7:n.2106_2107del
ENST00000626637.2:c.721+210_721+211del	ENSP00000486771.1:n.721+210_721+211del
ENST00000638648.2:c.*3_*4del	ENSP00000507949.1:n.*3_*4del
ENST00000640201.2:n.1005_1006del
ENST00000640752.2:n.4919+210_4919+211del
ENST00000682067.1:c.542+210_542+211del
ENST00000682086.1:n.988_989del
ENST00000682373.1:c.368+210_368+211del
ENST00000684696.1:c.668_669del	ENSP00000507675.1:p.Lys223ArgfsTer?
ENST00000309522.8:c.709+210_709+211del MANE Select	ENSP00000312288.4:n.709+210_709+211del
ENST00000403312.6:c.709+210_709+211del	ENSP00000385638.3:n.709+210_709+211del
ENST00000505878.4:c.886+210_886+211del	ENSP00000425952.2:n.886+210_886+211del
ENST00000514776.2:n.352_353del
ENST00000515462.6:n.2106_2107del
ENST00000638559.1:c.567+210_567+211del
ENST00000638621.1:c.295+210_295+211del	ENSP00000491581.1:n.295+210_295+211del
ENST00000638648.1:n.860+210_860+211del
ENST00000639146.1:c.*3_*4del	ENSP00000492345.1:n.*3_*4del
ENST00000639335.1:c.*144+210_*144+211del	ENSP00000491310.1:n.*144+210_*144+211del
ENST00000639698.1:c.516+4407_516+4408del	ENSP00000492420.1:n.516+4407_516+4408del
ENST00000639784.1:c.373+4407_373+4408del
ENST00000640048.1:c.681+210_681+211del	ENSP00000492009.1:n.681+210_681+211del
ENST00000640060.1:c.*804+210_*804+211del	ENSP00000492734.1:n.*804+210_*804+211del
ENST00000640201.1:n.874_875del
ENST00000640752.1:n.4912+210_4912+211del
ENST00000309522.7:c.709+210_709+211del	ENSP00000312288.3:n.709+210_709+211del
ENST00000403312.5:c.886+210_886+211del	ENSP00000385638.2:n.886+210_886+211del
ENST00000505878.3:c.721+210_721+211del	ENSP00000425952.1:n.721+210_721+211del
ENST00000510728.5:n.281_282del
ENST00000515462.5:n.256_257del
ENST00000603302.5:c.709+210_709+211del	ENSP00000474560.1:n.709+210_709+211del
ENST00000626637.1:c.721+210_721+211del	ENSP00000486771.1:n.721+210_721+211del
NM_001184705.2:c.709+210_709+211del	NP_001171634.2:n.709+210_709+211del
NM_005327.4:c.709+210_709+211del	NP_005318.3:n.709+210_709+211del
XM_005262972.1:c.721+210_721+211del	XP_005263029.1:n.721+210_721+211del
XR_938726.1:n.1068_1069del
NM_001331027.1:c.721+210_721+211del	NP_001317956.1:n.721+210_721+211del
XR_001741214.2:n.835_836del
XR_002959727.1:n.1013_1014del
NM_001184705.3:c.709+210_709+211del	NP_001171634.2:n.709+210_709+211del
NM_005327.7:c.709+210_709+211del MANE Select	NP_005318.6:n.709+210_709+211del
NM_001184705.4:c.709+210_709+211del	NP_001171634.3:n.709+210_709+211del
NM_001331027.2:c.721+210_721+211del	NP_001317956.2:n.721+210_721+211del