Canonical Allele Identifier: CA3327490

Gene: MSH3 DHFR

Linked Data

• ClinVar Variation Id: 518369
• ClinVar RCV Id: RCV000601631 ; RCV001613402 ; RCV001692225 ; RCV002256416
• dbSNP Id: rs1554066076
• ExAC: 5:79950724 G / GCCGCAGCGC
• gnomAD v2: 5-79950724-G-GCCGCAGCGC
• gnomAD v3: 5-80654905-G-GCCGCAGCGC
• gnomAD v4: 5-80654905-G-GCCGCAGCGC
• COSMIC: COSM5061231 ; COSM5061232
• MyVariant Identifiers: chr5:g.79950727_79950735dup (hg19) ; chr5:g.79950735_79950736insGCAGCGCCC (hg19) ; chr5:g.79950724_79950725insCCGCAGCGC (hg19) ; chr5:g.80654908_80654916dup (hg38) ; chr5:g.80654905_80654906insCCGCAGCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80654908_80654916dup , CM000667.2:g.80654908_80654916dup	GRCh38
NC_000005.9:g.79950727_79950735dup , CM000667.1:g.79950727_79950735dup	GRCh37
NC_000005.8:g.79986483_79986491dup	NCBI36
NG_016607.1:g.5434_5442dup
NG_023304.1:g.5068_5076dup
NG_016607.2:g.5434_5442dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.181_189dup (MSH3) MANE Select	ENSP00000265081.6:p.Pro63_Pro64insAlaAlaPro
ENST00000439211.7:c.-425_-417dup (DHFR) MANE Select	ENSP00000396308.2:n.-425_-417dup
ENST00000667069.1:c.181_189dup (MSH3)	ENSP00000499502.1:p.Pro63_Pro64insAlaAlaPro
ENST00000670357.1:c.181_189dup (MSH3)	ENSP00000499791.1:p.Pro63_Pro64insAlaAlaPro
ENST00000265081.6:c.181_189dup (MSH3)	ENSP00000265081.6:p.Pro63_Pro64insAlaAlaPro
ENST00000439211.6:c.-425_-417dup (DHFR)	ENSP00000396308.2:n.-425_-417dup
NM_000791.3:c.-425_-417dup (DHFR)	NP_000782.1:n.-425_-417dup
NM_001290354.1:c.-531_-523dup (DHFR)	NP_001277283.1:n.-531_-523dup
NM_001290357.1:c.-425_-417dup (DHFR)	NP_001277286.1:n.-425_-417dup
NM_002439.4:c.181_189dup (MSH3)	NP_002430.3:p.Pro63_Pro64insAlaAlaPro
NR_110936.1:n.68_76dup (DHFR)
NM_000791.4:c.-425_-417dup (DHFR) MANE Select	NP_000782.1:n.-425_-417dup
NM_002439.5:c.181_189dup (MSH3) MANE Select	NP_002430.3:p.Pro63_Pro64insAlaAlaPro
NM_001290354.2:c.-531_-523dup (DHFR)	NP_001277283.1:n.-531_-523dup
NM_001290357.2:c.-425_-417dup (DHFR)	NP_001277286.1:n.-425_-417dup
NR_110936.2:n.70_78dup (DHFR)