Canonical Allele Identifier: CA3327512

Gene: MSH3 DHFR

Linked Data

• ClinVar Variation Id: 402590
• ClinVar RCV Id: RCV000455926 ; RCV001285035 ; RCV001637018 ; RCV002257683
• dbSNP Id: rs3045983
• ExAC: 5:79950741 GCCCCCAGCT / G
• gnomAD v2: 5-79950741-GCCCCCAGCT-G
• gnomAD v3: 5-80654922-GCCCCCAGCT-G
• gnomAD v4: 5-80654922-GCCCCCAGCT-G
• COSMIC: COSM4168094 ; COSM5445954 ; COSM5445955
• MyVariant Identifiers: chr5:g.79950742_79950750del (hg19) ; chr5:g.80654924_80654932del (hg38) ; chr5:g.80654923_80654931del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80654926_80654934del , CM000667.2:g.80654926_80654934del	GRCh38
NC_000005.9:g.79950745_79950753del , CM000667.1:g.79950745_79950753del	GRCh37
NC_000005.8:g.79986501_79986509del	NCBI36
NG_016607.1:g.5452_5460del
NG_023304.1:g.5051_5059del
NG_016607.2:g.5452_5460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.199_207del (MSH3) MANE Select	ENSP00000265081.6:p.Pro67_Pro69del
ENST00000439211.7:c.-442_-434del (DHFR) MANE Select	ENSP00000396308.2:n.-442_-434del
ENST00000667069.1:c.199_207del (MSH3)	ENSP00000499502.1:p.Pro67_Pro69del
ENST00000670357.1:c.199_207del (MSH3)	ENSP00000499791.1:p.Pro67_Pro69del
ENST00000265081.6:c.199_207del (MSH3)	ENSP00000265081.6:p.Pro67_Pro69del
ENST00000439211.6:c.-442_-434del (DHFR)	ENSP00000396308.2:n.-442_-434del
NM_000791.3:c.-442_-434del (DHFR)	NP_000782.1:n.-442_-434del
NM_001290354.1:c.-548_-540del (DHFR)	NP_001277283.1:n.-548_-540del
NM_001290357.1:c.-442_-434del (DHFR)	NP_001277286.1:n.-442_-434del
NM_002439.4:c.199_207del (MSH3)	NP_002430.3:p.Pro67_Pro69del
NR_110936.1:n.51_59del (DHFR)
NM_000791.4:c.-442_-434del (DHFR) MANE Select	NP_000782.1:n.-442_-434del
NM_002439.5:c.199_207del (MSH3) MANE Select	NP_002430.3:p.Pro67_Pro69del
NM_001290354.2:c.-548_-540del (DHFR)	NP_001277283.1:n.-548_-540del
NM_001290357.2:c.-442_-434del (DHFR)	NP_001277286.1:n.-442_-434del
NR_110936.2:n.53_61del (DHFR)