Canonical Allele Identifier: CA2595186901

Gene: SMAD3

Linked Data

• gnomAD v3: 15-67066466-G-GGAGT
• gnomAD v4: 15-67066466-G-GGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066470_67066473dup , CM000677.2:g.67066470_67066473dup	GRCh38
NC_000015.9:g.67358808_67358811dup , CM000677.1:g.67358808_67358811dup	GRCh37
NC_000015.8:g.65145862_65145865dup	NCBI36
NG_011990.1:g.5614_5617dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2526_-110+2529dup	ENSP00000453082.2:n.-110+2526_-110+2529dup
ENST00000560424.2:c.206+110_206+113dup	ENSP00000455540.2:n.206+110_206+113dup
ENST00000327367.9:c.206+110_206+113dup MANE Select	ENSP00000332973.4:n.206+110_206+113dup
ENST00000327367.8:c.206+110_206+113dup	ENSP00000332973.4:n.206+110_206+113dup
ENST00000559460.5:c.-110+2526_-110+2529dup	ENSP00000453082.1:n.-110+2526_-110+2529dup
NM_005902.3:c.206+110_206+113dup	NP_005893.1:n.206+110_206+113dup
XM_011521559.1:c.206+110_206+113dup	XP_011519861.1:n.206+110_206+113dup
XM_011521559.3:c.206+110_206+113dup	XP_011519861.1:n.206+110_206+113dup
NM_005902.4:c.206+110_206+113dup MANE Select	NP_005893.1:n.206+110_206+113dup