Canonical Allele Identifier: CA3327498

Gene: MSH3 DHFR

Linked Data

• ClinVar Variation Id: 717848
• ClinVar RCV Id: RCV000890699 ; RCV001729736 ; RCV002258028
• dbSNP Id: rs60484572
• ExAC: 5:79950727 GCAGCGCCCC / G
• gnomAD v2: 5-79950727-GCAGCGCCCC-G
• gnomAD v3: 5-80654908-GCAGCGCCCC-G
• gnomAD v4: 5-80654908-GCAGCGCCCC-G
• COSMIC: COSM5960259 ; COSM5960260
• MyVariant Identifiers: chr5:g.79950728_79950736del (hg19) ; chr5:g.80654909_80654917del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80654922_80654930del , CM000667.2:g.80654922_80654930del	GRCh38
NC_000005.9:g.79950741_79950749del , CM000667.1:g.79950741_79950749del	GRCh37
NC_000005.8:g.79986497_79986505del	NCBI36
NG_016607.1:g.5448_5456del
NG_023304.1:g.5065_5073del
NG_016607.2:g.5448_5456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.195_203del (MSH3) MANE Select	ENSP00000265081.6:p.Pro66_Ala68del
ENST00000439211.7:c.-428_-420del (DHFR) MANE Select	ENSP00000396308.2:n.-428_-420del
ENST00000667069.1:c.195_203del (MSH3)	ENSP00000499502.1:p.Pro66_Ala68del
ENST00000670357.1:c.195_203del (MSH3)	ENSP00000499791.1:p.Pro66_Ala68del
ENST00000265081.6:c.195_203del (MSH3)	ENSP00000265081.6:p.Pro66_Ala68del
ENST00000439211.6:c.-428_-420del (DHFR)	ENSP00000396308.2:n.-428_-420del
NM_000791.3:c.-428_-420del (DHFR)	NP_000782.1:n.-428_-420del
NM_001290354.1:c.-534_-526del (DHFR)	NP_001277283.1:n.-534_-526del
NM_001290357.1:c.-428_-420del (DHFR)	NP_001277286.1:n.-428_-420del
NM_002439.4:c.195_203del (MSH3)	NP_002430.3:p.Pro66_Ala68del
NR_110936.1:n.65_73del (DHFR)
NM_000791.4:c.-428_-420del (DHFR) MANE Select	NP_000782.1:n.-428_-420del
NM_002439.5:c.195_203del (MSH3) MANE Select	NP_002430.3:p.Pro66_Ala68del
NM_001290354.2:c.-534_-526del (DHFR)	NP_001277283.1:n.-534_-526del
NM_001290357.2:c.-428_-420del (DHFR)	NP_001277286.1:n.-428_-420del
NR_110936.2:n.67_75del (DHFR)