Canonical Allele Identifier: CA2578350087

Linked Data

dbSNP Id: rs2112798074

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80654912_80654913insACCCGCAGC , CM000667.2:g.80654912_80654913insACCCGCAGC GRCh38
NC_000005.9:g.79950731_79950732insACCCGCAGC , CM000667.1:g.79950731_79950732insACCCGCAGC GRCh37
NC_000005.8:g.79986487_79986488insACCCGCAGC NCBI36
NG_016607.1:g.5438_5439insACCCGCAGC
NG_023304.1:g.5076_5077insGTGCTGCGG
NG_016607.2:g.5438_5439insACCCGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.185_186insACCCGCAGC (MSH3) MANE Select ENSP00000265081.6:p.Ala62_Pro63insProAlaAla
ENST00000439211.7:c.-417_-416insGTGCTGCGG (DHFR) MANE Select ENSP00000396308.2:n.-417_-416insGTGCTGCGG
ENST00000667069.1:c.185_186insACCCGCAGC (MSH3) ENSP00000499502.1:p.Ala62_Pro63insProAlaAla
ENST00000670357.1:c.185_186insACCCGCAGC (MSH3) ENSP00000499791.1:p.Ala62_Pro63insProAlaAla
ENST00000265081.6:c.185_186insACCCGCAGC (MSH3) ENSP00000265081.6:p.Ala62_Pro63insProAlaAla
ENST00000439211.6:c.-417_-416insGTGCTGCGG (DHFR) ENSP00000396308.2:n.-417_-416insGTGCTGCGG
NM_000791.3:c.-417_-416insGTGCTGCGG (DHFR) NP_000782.1:n.-417_-416insGTGCTGCGG
NM_001290354.1:c.-523_-522insGTGCTGCGG (DHFR) NP_001277283.1:n.-523_-522insGTGCTGCGG
NM_001290357.1:c.-417_-416insGTGCTGCGG (DHFR) NP_001277286.1:n.-417_-416insGTGCTGCGG
NM_002439.4:c.185_186insACCCGCAGC (MSH3) NP_002430.3:p.Ala62_Pro63insProAlaAla
NR_110936.1:n.76_77insGTGCTGCGG (DHFR)
NM_000791.4:c.-417_-416insGTGCTGCGG (DHFR) MANE Select NP_000782.1:n.-417_-416insGTGCTGCGG
NM_002439.5:c.185_186insACCCGCAGC (MSH3) MANE Select NP_002430.3:p.Ala62_Pro63insProAlaAla
NM_001290354.2:c.-523_-522insGTGCTGCGG (DHFR) NP_001277283.1:n.-523_-522insGTGCTGCGG
NM_001290357.2:c.-417_-416insGTGCTGCGG (DHFR) NP_001277286.1:n.-417_-416insGTGCTGCGG
NR_110936.2:n.78_79insGTGCTGCGG (DHFR)