Canonical Allele Identifier: CA618803153

Gene: SMAD3

Linked Data

• dbSNP Id: rs1188916340
• gnomAD v2: 15-67358345-CCGGCG-C
• gnomAD v3: 15-67066007-CCGGCG-C
• gnomAD v4: 15-67066007-CCGGCG-C
• MyVariant Identifiers: chr15:g.67358346_67358350del (hg19) ; chr15:g.67066008_67066012del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066009_67066013del , CM000677.2:g.67066009_67066013del	GRCh38
NC_000015.9:g.67358347_67358351del , CM000677.1:g.67358347_67358351del	GRCh37
NC_000015.8:g.65145401_65145405del	NCBI36
NG_011990.1:g.5153_5157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2065_-110+2069del	ENSP00000453082.2:n.-110+2065_-110+2069del
ENST00000560424.2:c.-146_-142del	ENSP00000455540.2:n.-146_-142del
ENST00000327367.9:c.-146_-142del MANE Select	ENSP00000332973.4:n.-146_-142del
ENST00000327367.8:c.-146_-142del	ENSP00000332973.4:n.-146_-142del
ENST00000559460.5:c.-110+2065_-110+2069del	ENSP00000453082.1:n.-110+2065_-110+2069del
NM_005902.3:c.-146_-142del	NP_005893.1:n.-146_-142del
XM_011521559.1:c.-146_-142del	XP_011519861.1:n.-146_-142del
NM_005902.4:c.-146_-142del MANE Select	NP_005893.1:n.-146_-142del