Canonical Allele Identifier: CA2984202452
Community Standard Title: NM_000791.4(DHFR):c.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80654897_80654898insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC , CM000667.2:g.80654897_80654898insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC GRCh38
NC_000005.9:g.79950716_79950717insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC , CM000667.1:g.79950716_79950717insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC GRCh37
NC_000005.8:g.79986472_79986473insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC NCBI36
NG_016607.1:g.5423_5424insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC
NG_023304.1:g.5104_5105insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC
NG_016607.2:g.5423_5424insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC

Transcript Alleles

HGVS Amino-acid Change
NM_000791.4:c.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC (DHFR) MANE Select NP_000782.1:n.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAG...
NM_002439.5:c.170_171insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC (MSH3) MANE Select NP_002430.3:p.Ala57_Ala58insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
ENST00000265081.7:c.170_171insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC (MSH3) MANE Select ENSP00000265081.6:p.Ala57_Ala58insAlaAlaAlaAlaAlaAlaAlaAlaAla...
ENST00000439211.7:c.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC (DHFR) MANE Select ENSP00000396308.2:n.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCG...
NM_000791.3:c.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC (DHFR) NP_000782.1:n.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAG...
NM_001290354.1:c.-495_-494insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC (DHFR) NP_001277283.1:n.-495_-494insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTG...
NM_001290354.2:c.-495_-494insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC (DHFR) NP_001277283.1:n.-495_-494insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTG...
NM_001290357.1:c.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC (DHFR) NP_001277286.1:n.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTG...
NM_001290357.2:c.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC (DHFR) NP_001277286.1:n.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTG...
NM_002439.4:c.170_171insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC (MSH3) NP_002430.3:p.Ala57_Ala58insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NR_110936.1:n.104_105insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC (DHFR)
NR_110936.2:n.106_107insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC (DHFR)
ENST00000265081.6:c.170_171insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC (MSH3) ENSP00000265081.6:p.Ala57_Ala58insAlaAlaAlaAlaAlaAlaAlaAlaAla...
ENST00000439211.6:c.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCGCTGCAGC (DHFR) ENSP00000396308.2:n.-389_-388insCGCTGCGGCCGCTGCAGCCGCTGCAGCCG...
ENST00000667069.1:c.170_171insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC (MSH3) ENSP00000499502.1:p.Ala57_Ala58insAlaAlaAlaAlaAlaAlaAlaAlaAla...
ENST00000670357.1:c.170_171insTGCAGCGGCCGCAGCGGCTGCAGCGGCTGCAGCGGC (MSH3) ENSP00000499791.1:p.Ala57_Ala58insAlaAlaAlaAlaAlaAlaAlaAlaAla...