Canonical Allele Identifier: CA2595186899

Gene: SMAD3

Linked Data

• gnomAD v3: 15-67066452-GGA-G
• gnomAD v4: 15-67066452-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066460_67066461del , CM000677.2:g.67066460_67066461del	GRCh38
NC_000015.9:g.67358798_67358799del , CM000677.1:g.67358798_67358799del	GRCh37
NC_000015.8:g.65145852_65145853del	NCBI36
NG_011990.1:g.5604_5605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2516_-110+2517del	ENSP00000453082.2:n.-110+2516_-110+2517del
ENST00000560424.2:c.206+100_206+101del	ENSP00000455540.2:n.206+100_206+101del
ENST00000327367.9:c.206+100_206+101del MANE Select	ENSP00000332973.4:n.206+100_206+101del
ENST00000327367.8:c.206+100_206+101del	ENSP00000332973.4:n.206+100_206+101del
ENST00000559460.5:c.-110+2516_-110+2517del	ENSP00000453082.1:n.-110+2516_-110+2517del
NM_005902.3:c.206+100_206+101del	NP_005893.1:n.206+100_206+101del
XM_011521559.1:c.206+100_206+101del	XP_011519861.1:n.206+100_206+101del
XM_011521559.3:c.206+100_206+101del	XP_011519861.1:n.206+100_206+101del
NM_005902.4:c.206+100_206+101del MANE Select	NP_005893.1:n.206+100_206+101del