Canonical Allele Identifier: CA2184410846

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165341_67165345delinsCACTA , CM000677.2:g.67165341_67165345delinsCACTA	GRCh38
NC_000015.9:g.67457679_67457683delinsCACTA , CM000677.1:g.67457679_67457683delinsCACTA	GRCh37
NC_000015.8:g.65244733_65244737delinsCACTA	NCBI36
NG_011990.1:g.104485_104489delinsCACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.174_178delinsCACTA	ENSP00000453684.2:p.Asn58=
ENST00000559460.6:c.174_178delinsCACTA	ENSP00000453082.2:p.Asn58=
ENST00000560424.2:c.489_493delinsCACTA	ENSP00000455540.2:p.Asn163=
ENST00000327367.9:c.489_493delinsCACTA MANE Select	ENSP00000332973.4:p.Asn163=
ENST00000679624.1:c.174_178delinsCACTA	ENSP00000505445.1:p.Asn58=
ENST00000681239.1:c.174_178delinsCACTA	ENSP00000505641.1:p.Asn58=
ENST00000327367.8:c.489_493delinsCACTA	ENSP00000332973.4:p.Asn163=
ENST00000439724.7:c.357_361delinsCACTA	ENSP00000401133.3:p.Asn119=
ENST00000540846.6:c.174_178delinsCACTA	ENSP00000437757.2:p.Asn58=
ENST00000558739.1:c.174_178delinsCACTA	ENSP00000453684.1:p.Asn58=
ENST00000558894.5:c.174_178delinsCACTA	ENSP00000458060.1:p.Asn58=
ENST00000559460.5:c.174_178delinsCACTA	ENSP00000453082.1:p.Asn58=
ENST00000559937.1:n.339_343delinsCACTA
ENST00000560175.5:c.174_178delinsCACTA	ENSP00000455095.1:p.Asn58=
NM_001145102.1:c.174_178delinsCACTA	NP_001138574.1:p.Asn58=
NM_001145103.1:c.357_361delinsCACTA	NP_001138575.1:p.Asn119=
NM_005902.3:c.489_493delinsCACTA	NP_005893.1:p.Asn163=
XM_011521559.1:c.400+253_400+257delinsCACTA	XP_011519861.1:n.400+253_400+257delinsCACTA
XM_011521560.1:c.342_346delinsCACTA	XP_011519862.1:p.Asn114=
XM_011521559.3:c.400+253_400+257delinsCACTA	XP_011519861.1:n.400+253_400+257delinsCACTA
NM_005902.4:c.489_493delinsCACTA MANE Select	NP_005893.1:p.Asn163=
NM_001145102.2:c.174_178delinsCACTA	NP_001138574.1:p.Asn58=
NM_001145103.2:c.357_361delinsCACTA	NP_001138575.1:p.Asn119=