Canonical Allele Identifier: CA2184423381

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192768_67192776delinsAAAAAAGCC , CM000677.2:g.67192768_67192776delinsAAAAAAGCC	GRCh38
NC_000015.9:g.67485106_67485114delinsAAAAAAGCC , CM000677.1:g.67485106_67485114delinsAAAAAAGCC	GRCh37
NC_000015.8:g.65272160_65272168delinsAAAAAAGCC	NCBI36
NG_011990.1:g.131912_131920delinsAAAAAAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.*2232_*2240delinsAAAAAAGCC	ENSP00000453684.2:n.*2232_*2240delinsAAAAAAGCC
ENST00000559460.6:c.*2232_*2240delinsAAAAAAGCC	ENSP00000453082.2:n.*2232_*2240delinsAAAAAAGCC
ENST00000327367.9:c.*2232_*2240delinsAAAAAAGCC MANE Select	ENSP00000332973.4:n.*2232_*2240delinsAAAAAAGCC
ENST00000679624.1:c.*2232_*2240delinsAAAAAAGCC	ENSP00000505445.1:n.*2232_*2240delinsAAAAAAGCC
ENST00000681239.1:c.*2232_*2240delinsAAAAAAGCC	ENSP00000505641.1:n.*2232_*2240delinsAAAAAAGCC
ENST00000327367.8:c.*2232_*2240delinsAAAAAAGCC	ENSP00000332973.4:n.*2232_*2240delinsAAAAAAGCC
ENST00000560402.1:n.283-105_283-97delinsAAAAAAGCC
NM_001145102.1:c.*2232_*2240delinsAAAAAAGCC	NP_001138574.1:n.*2232_*2240delinsAAAAAAGCC
NM_001145103.1:c.*2232_*2240delinsAAAAAAGCC	NP_001138575.1:n.*2232_*2240delinsAAAAAAGCC
NM_001145104.1:c.*2232_*2240delinsAAAAAAGCC	NP_001138576.1:n.*2232_*2240delinsAAAAAAGCC
NM_005902.3:c.*2232_*2240delinsAAAAAAGCC	NP_005893.1:n.*2232_*2240delinsAAAAAAGCC
XM_011521559.1:c.*2232_*2240delinsAAAAAAGCC	XP_011519861.1:n.*2232_*2240delinsAAAAAAGCC
XM_011521560.1:c.*2232_*2240delinsAAAAAAGCC	XP_011519862.1:n.*2232_*2240delinsAAAAAAGCC
XM_011521559.3:c.*2232_*2240delinsAAAAAAGCC	XP_011519861.1:n.*2232_*2240delinsAAAAAAGCC
NM_005902.4:c.*2232_*2240delinsAAAAAAGCC MANE Select	NP_005893.1:n.*2232_*2240delinsAAAAAAGCC
NM_001145102.2:c.*2232_*2240delinsAAAAAAGCC	NP_001138574.1:n.*2232_*2240delinsAAAAAAGCC
NM_001145103.2:c.*2232_*2240delinsAAAAAAGCC	NP_001138575.1:n.*2232_*2240delinsAAAAAAGCC
NM_001145104.2:c.*2232_*2240delinsAAAAAAGCC	NP_001138576.1:n.*2232_*2240delinsAAAAAAGCC