Canonical Allele Identifier: CA2184410422

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165127_67165128delinsAG , CM000677.2:g.67165127_67165128delinsAG	GRCh38
NC_000015.9:g.67457465_67457466delinsAG , CM000677.1:g.67457465_67457466delinsAG	GRCh37
NC_000015.8:g.65244519_65244520delinsAG	NCBI36
NG_011990.1:g.104271_104272delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.85+39_85+40delinsAG	ENSP00000453684.2:n.85+39_85+40delinsAG
ENST00000559460.6:c.85+39_85+40delinsAG	ENSP00000453082.2:n.85+39_85+40delinsAG
ENST00000560424.2:c.400+39_400+40delinsAG	ENSP00000455540.2:n.400+39_400+40delinsAG
ENST00000327367.9:c.400+39_400+40delinsAG MANE Select	ENSP00000332973.4:n.400+39_400+40delinsAG
ENST00000679624.1:c.85+39_85+40delinsAG	ENSP00000505445.1:n.85+39_85+40delinsAG
ENST00000681239.1:c.85+39_85+40delinsAG	ENSP00000505641.1:n.85+39_85+40delinsAG
ENST00000327367.8:c.400+39_400+40delinsAG	ENSP00000332973.4:n.400+39_400+40delinsAG
ENST00000439724.7:c.268+39_268+40delinsAG	ENSP00000401133.3:n.268+39_268+40delinsAG
ENST00000540846.6:c.85+39_85+40delinsAG	ENSP00000437757.2:n.85+39_85+40delinsAG
ENST00000558739.1:c.85+39_85+40delinsAG	ENSP00000453684.1:n.85+39_85+40delinsAG
ENST00000558894.5:c.85+39_85+40delinsAG	ENSP00000458060.1:n.85+39_85+40delinsAG
ENST00000559460.5:c.85+39_85+40delinsAG	ENSP00000453082.1:n.85+39_85+40delinsAG
ENST00000559937.1:n.250+39_250+40delinsAG
ENST00000560175.5:c.85+39_85+40delinsAG	ENSP00000455095.1:n.85+39_85+40delinsAG
NM_001145102.1:c.85+39_85+40delinsAG	NP_001138574.1:n.85+39_85+40delinsAG
NM_001145103.1:c.268+39_268+40delinsAG	NP_001138575.1:n.268+39_268+40delinsAG
NM_005902.3:c.400+39_400+40delinsAG	NP_005893.1:n.400+39_400+40delinsAG
XM_011521559.1:c.400+39_400+40delinsAG	XP_011519861.1:n.400+39_400+40delinsAG
XM_011521560.1:c.253+39_253+40delinsAG	XP_011519862.1:n.253+39_253+40delinsAG
XM_011521559.3:c.400+39_400+40delinsAG	XP_011519861.1:n.400+39_400+40delinsAG
NM_005902.4:c.400+39_400+40delinsAG MANE Select	NP_005893.1:n.400+39_400+40delinsAG
NM_001145102.2:c.85+39_85+40delinsAG	NP_001138574.1:n.85+39_85+40delinsAG
NM_001145103.2:c.268+39_268+40delinsAG	NP_001138575.1:n.268+39_268+40delinsAG