Canonical Allele Identifier: CA1139770581

Linked Data

dbSNP Id: rs1749214765

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80654916_80654917insGCAGCGCCT , CM000667.2:g.80654916_80654917insGCAGCGCCT GRCh38
NC_000005.9:g.79950735_79950736insGCAGCGCCT , CM000667.1:g.79950735_79950736insGCAGCGCCT GRCh37
NC_000005.8:g.79986491_79986492insGCAGCGCCT NCBI36
NG_016607.1:g.5442_5443insGCAGCGCCT
NG_023304.1:g.5065_5066insAGGCGCTGC
NG_016607.2:g.5442_5443insGCAGCGCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.189_190insGCAGCGCCT (MSH3) MANE Select ENSP00000265081.6:p.Pro63_Pro64insAlaAlaPro
ENST00000439211.7:c.-428_-427insAGGCGCTGC (DHFR) MANE Select ENSP00000396308.2:n.-428_-427insAGGCGCTGC
ENST00000667069.1:c.189_190insGCAGCGCCT (MSH3) ENSP00000499502.1:p.Pro63_Pro64insAlaAlaPro
ENST00000670357.1:c.189_190insGCAGCGCCT (MSH3) ENSP00000499791.1:p.Pro63_Pro64insAlaAlaPro
ENST00000265081.6:c.189_190insGCAGCGCCT (MSH3) ENSP00000265081.6:p.Pro63_Pro64insAlaAlaPro
ENST00000439211.6:c.-428_-427insAGGCGCTGC (DHFR) ENSP00000396308.2:n.-428_-427insAGGCGCTGC
NM_000791.3:c.-428_-427insAGGCGCTGC (DHFR) NP_000782.1:n.-428_-427insAGGCGCTGC
NM_001290354.1:c.-534_-533insAGGCGCTGC (DHFR) NP_001277283.1:n.-534_-533insAGGCGCTGC
NM_001290357.1:c.-428_-427insAGGCGCTGC (DHFR) NP_001277286.1:n.-428_-427insAGGCGCTGC
NM_002439.4:c.189_190insGCAGCGCCT (MSH3) NP_002430.3:p.Pro63_Pro64insAlaAlaPro
NR_110936.1:n.65_66insAGGCGCTGC (DHFR)
NM_000791.4:c.-428_-427insAGGCGCTGC (DHFR) MANE Select NP_000782.1:n.-428_-427insAGGCGCTGC
NM_002439.5:c.189_190insGCAGCGCCT (MSH3) MANE Select NP_002430.3:p.Pro63_Pro64insAlaAlaPro
NM_001290354.2:c.-534_-533insAGGCGCTGC (DHFR) NP_001277283.1:n.-534_-533insAGGCGCTGC
NM_001290357.2:c.-428_-427insAGGCGCTGC (DHFR) NP_001277286.1:n.-428_-427insAGGCGCTGC
NR_110936.2:n.67_68insAGGCGCTGC (DHFR)