Canonical Allele Identifier: CA578720413

Gene: SMARCD3

Linked Data

• dbSNP Id: rs1554489287
• gnomAD v2: 7-150950987-G-GT
• gnomAD v3: 7-151253901-G-GT
• gnomAD v4: 7-151253901-G-GT
• MyVariant Identifiers: chr7:g.150950987_150950988insT (hg19) ; chr7:g.151253901_151253902insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151253901_151253902insT , CM000669.2:g.151253901_151253902insT	GRCh38
NC_000007.13:g.150950987_150950988insT , CM000669.1:g.150950987_150950988insT	GRCh37
NC_000007.12:g.150581920_150581921insT	NCBI36
NG_029468.1:g.28244_28245insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356800.6:c.40-8231_40-8230insA	ENSP00000349254.2:n.40-8231_40-8230insA
ENST00000392811.6:c.40-8231_40-8230insA	ENSP00000376558.2:n.40-8231_40-8230insA
ENST00000469154.5:c.71-10201_71-10200insA	ENSP00000417908.1:n.71-10201_71-10200insA
ENST00000477169.5:n.184+393_184+394insA
ENST00000491651.1:c.40-8231_40-8230insA	ENSP00000419886.1:n.40-8231_40-8230insA
NM_001003802.1:c.40-8231_40-8230insA	NP_001003802.1:n.40-8231_40-8230insA
NM_003078.3:c.40-8231_40-8230insA	NP_003069.2:n.40-8231_40-8230insA
XM_011516521.1:c.-16-10201_-16-10200insA	XP_011514823.1:n.-16-10201_-16-10200insA
XR_928174.1:n.717-412_717-411insT
XM_011516521.2:c.-16-10201_-16-10200insA	XP_011514823.1:n.-16-10201_-16-10200insA
XM_024446887.1:c.40-8231_40-8230insA	XP_024302655.1:n.40-8231_40-8230insA
XM_024446888.1:c.-16-10201_-16-10200insA	XP_024302656.1:n.-16-10201_-16-10200insA
XM_024446889.1:c.-221-10201_-221-10200insA	XP_024302657.1:n.-221-10201_-221-10200insA
NM_003078.4:c.40-8231_40-8230insA	NP_003069.2:n.40-8231_40-8230insA
NM_001003802.2:c.40-8231_40-8230insA	NP_001003802.1:n.40-8231_40-8230insA