Canonical Allele Identifier: CA2346678484

Gene: ADAM33

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671100_3671105delinsGGAGCA , CM000682.2:g.3671100_3671105delinsGGAGCA	GRCh38
NC_000020.10:g.3651747_3651752delinsGGAGCA , CM000682.1:g.3651747_3651752delinsGGAGCA	GRCh37
NC_000020.9:g.3599747_3599752delinsGGAGCA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2141_2146delinsTGCTCC MANE Select	ENSP00000348912.3:p.Leu714=
ENST00000350009.6:c.2063_2068delinsTGCTCC	ENSP00000322550.5:p.Leu688=
ENST00000356518.6:c.2141_2146delinsTGCTCC	ENSP00000348912.2:p.Leu714=
ENST00000379861.8:c.2141_2146delinsTGCTCC	ENSP00000369190.4:p.Leu714=
ENST00000466620.5:n.1702_1707delinsTGCTCC
ENST00000617732.1:c.*828_*833delinsTGCTCC	ENSP00000483343.1:n.*828_*833delinsTGCTCC
ENST00000619289.4:c.1781_1786delinsTGCTCC	ENSP00000484600.1:p.Leu594=
NM_001282447.1:c.2141_2146delinsTGCTCC	NP_001269376.1:p.Leu714=
NM_025220.3:c.2141_2146delinsTGCTCC	NP_079496.1:p.Leu714=
NM_153202.2:c.2063_2068delinsTGCTCC	NP_694882.1:p.Leu688=
XM_005260843.1:c.2180_2185delinsTGCTCC	XP_005260900.1:p.Leu727=
XM_006723639.1:c.2180_2185delinsTGCTCC	XP_006723702.1:p.Leu727=
XM_006723640.1:c.2171_2176delinsTGCTCC	XP_006723703.1:p.Leu724=
XM_011529366.1:c.2177_2182delinsTGCTCC	XP_011527668.1:p.Leu726=
XM_011529367.1:c.2138_2143delinsTGCTCC	XP_011527669.1:p.Leu713=
XM_011529368.1:c.2102_2107delinsTGCTCC	XP_011527670.1:p.Leu701=
XM_011529373.1:c.1178_1183delinsTGCTCC	XP_011527675.1:p.Leu393=
XR_937151.1:n.2284_2289delinsTGCTCC
XR_937152.1:n.2284_2289delinsTGCTCC
XR_937153.1:n.2165_2170delinsTGCTCC
XR_937154.1:n.2165_2170delinsTGCTCC
XR_937155.1:n.2086_2091delinsTGCTCC
XR_937157.1:n.2088_2093delinsTGCTCC
NM_001282447.2:c.2141_2146delinsTGCTCC	NP_001269376.1:p.Leu714=
NM_025220.4:c.2141_2146delinsTGCTCC	NP_079496.1:p.Leu714=
NM_153202.3:c.2063_2068delinsTGCTCC	NP_694882.1:p.Leu688=
XM_011529373.2:c.1178_1183delinsTGCTCC	XP_011527675.1:p.Leu393=
XR_001754405.1:n.2252_2257delinsTGCTCC
XR_002958534.1:n.2361_2366delinsTGCTCC
NM_001282447.3:c.2141_2146delinsTGCTCC	NP_001269376.1:p.Leu714=
NM_025220.5:c.2141_2146delinsTGCTCC MANE Select	NP_079496.1:p.Leu714=
NM_153202.4:c.2063_2068delinsTGCTCC	NP_694882.1:p.Leu688=