Canonical Allele Identifier: CA647594416
Gene: MLH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993400dup , CM000665.2:g.36993400dup GRCh38
NC_000003.11:g.37034891dup , CM000665.1:g.37034891dup GRCh37
NC_000003.10:g.37009895dup NCBI36
NG_007109.2:g.5051dup , LRG_216:g.5051dup
NG_008418.1:g.4905dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-148dup ENSP00000416476.2:n.-148dup
ENST00000673673.2:c.-148dup ENSP00000500979.2:n.-148dup
ENST00000231790.6:c.-148dup ENSP00000231790.2:n.-148dup
ENST00000536378.5:c.-780dup ENSP00000444286.2:n.-780dup
NM_000249.3:c.-148dup , LRG_216t1:c.-148dup NP_000240.1:n.-148dup
NM_001258271.1:c.-148dup NP_001245200.1:n.-148dup
NM_001258273.1:c.-780dup NP_001245202.1:n.-780dup
NM_001167617.2:c.-664dup NP_001161089.1:n.-664dup
NM_001167618.2:c.-1093dup NP_001161090.1:n.-1093dup
NM_001167619.2:c.-1006dup NP_001161091.1:n.-1006dup
NM_001258274.2:c.-1243dup NP_001245203.1:n.-1243dup
NM_001354615.1:c.-774dup NP_001341544.1:n.-774dup
NM_001354616.1:c.-774dup NP_001341545.1:n.-774dup
NM_001354617.1:c.-866dup NP_001341546.1:n.-866dup
NM_001354618.1:c.-1098dup NP_001341547.1:n.-1098dup
NM_001354619.1:c.-1222dup NP_001341548.1:n.-1222dup
NM_001354620.1:c.-432dup NP_001341549.1:n.-432dup
NM_001354621.1:c.-1191dup NP_001341550.1:n.-1191dup
NM_001354622.1:c.-1304dup NP_001341551.1:n.-1304dup
NM_001354623.1:c.-1213dup NP_001341552.1:n.-1213dup
NM_001354624.1:c.-974dup NP_001341553.1:n.-974dup
NM_001354625.1:c.-872dup NP_001341554.1:n.-872dup
NM_001354626.1:c.-969dup NP_001341555.1:n.-969dup
NM_001354627.1:c.-1201dup NP_001341556.1:n.-1201dup
NM_001354628.1:c.-148dup NP_001341557.1:n.-148dup
NM_001354629.1:c.-148dup NP_001341558.1:n.-148dup
NM_001354630.1:c.-148dup NP_001341559.1:n.-148dup