Canonical Allele Identifier: CA2629120245

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67184666-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184669_67184670del , CM000677.2:g.67184669_67184670del	GRCh38
NC_000015.9:g.67477007_67477008del , CM000677.1:g.67477007_67477008del	GRCh37
NC_000015.8:g.65264061_65264062del	NCBI36
NG_011990.1:g.123813_123814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.287-58_287-57del	ENSP00000454165.2:n.287-58_287-57del
ENST00000558739.2:c.557-58_557-57del	ENSP00000453684.2:n.557-58_557-57del
ENST00000558827.2:c.287-58_287-57del	ENSP00000452767.2:n.287-58_287-57del
ENST00000559460.6:c.557-58_557-57del	ENSP00000453082.2:n.557-58_557-57del
ENST00000560424.2:c.872-58_872-57del	ENSP00000455540.2:n.872-58_872-57del
ENST00000327367.9:c.872-58_872-57del MANE Select	ENSP00000332973.4:n.872-58_872-57del
ENST00000679624.1:c.557-58_557-57del	ENSP00000505445.1:n.557-58_557-57del
ENST00000680689.1:n.575-58_575-57del
ENST00000681239.1:c.557-58_557-57del	ENSP00000505641.1:n.557-58_557-57del
ENST00000327367.8:c.872-58_872-57del	ENSP00000332973.4:n.872-58_872-57del
ENST00000439724.7:c.740-58_740-57del	ENSP00000401133.3:n.740-58_740-57del
ENST00000537194.6:c.287-58_287-57del	ENSP00000445348.2:n.287-58_287-57del
ENST00000540846.6:c.557-58_557-57del	ENSP00000437757.2:n.557-58_557-57del
ENST00000558827.1:c.287-58_287-57del	ENSP00000452767.1:n.287-58_287-57del
ENST00000558894.5:c.557-2696_557-2695del	ENSP00000458060.1:n.557-2696_557-2695del
ENST00000560402.1:n.283-8204_283-8203del
NM_001145102.1:c.557-58_557-57del	NP_001138574.1:n.557-58_557-57del
NM_001145103.1:c.740-58_740-57del	NP_001138575.1:n.740-58_740-57del
NM_001145104.1:c.287-58_287-57del	NP_001138576.1:n.287-58_287-57del
NM_005902.3:c.872-58_872-57del	NP_005893.1:n.872-58_872-57del
XM_011521559.1:c.740-58_740-57del	XP_011519861.1:n.740-58_740-57del
XM_011521560.1:c.725-58_725-57del	XP_011519862.1:n.725-58_725-57del
XM_011521559.3:c.740-58_740-57del	XP_011519861.1:n.740-58_740-57del
NM_005902.4:c.872-58_872-57del MANE Select	NP_005893.1:n.872-58_872-57del
NM_001145102.2:c.557-58_557-57del	NP_001138574.1:n.557-58_557-57del
NM_001145103.2:c.740-58_740-57del	NP_001138575.1:n.740-58_740-57del
NM_001145104.2:c.287-58_287-57del	NP_001138576.1:n.287-58_287-57del