Canonical Allele Identifier: CA2629115044

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67066458-AGAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066466_67066469del , CM000677.2:g.67066466_67066469del	GRCh38
NC_000015.9:g.67358804_67358807del , CM000677.1:g.67358804_67358807del	GRCh37
NC_000015.8:g.65145858_65145861del	NCBI36
NG_011990.1:g.5610_5613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2522_-110+2525del	ENSP00000453082.2:n.-110+2522_-110+2525del
ENST00000560424.2:c.206+106_206+109del	ENSP00000455540.2:n.206+106_206+109del
ENST00000327367.9:c.206+106_206+109del MANE Select	ENSP00000332973.4:n.206+106_206+109del
ENST00000327367.8:c.206+106_206+109del	ENSP00000332973.4:n.206+106_206+109del
ENST00000559460.5:c.-110+2522_-110+2525del	ENSP00000453082.1:n.-110+2522_-110+2525del
NM_005902.3:c.206+106_206+109del	NP_005893.1:n.206+106_206+109del
XM_011521559.1:c.206+106_206+109del	XP_011519861.1:n.206+106_206+109del
XM_011521559.3:c.206+106_206+109del	XP_011519861.1:n.206+106_206+109del
NM_005902.4:c.206+106_206+109del MANE Select	NP_005893.1:n.206+106_206+109del