Canonical Allele Identifier: CA2573139443
Gene: NKX2-5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233111dup , CM000667.2:g.173233111dup GRCh38
NC_000005.9:g.172660114dup , CM000667.1:g.172660114dup GRCh37
NC_000005.8:g.172592720dup NCBI36
NG_013340.1:g.7203dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.434dup MANE Select ENSP00000327758.4:p.Ser146LeufsTer7
ENST00000329198.4:c.434dup ENSP00000327758.4:p.Ser146LeufsTer7
ENST00000424406.2:c.*387dup ENSP00000395378.2:n.*387dup
ENST00000521848.1:c.*233dup ENSP00000427906.1:n.*233dup
NM_001166175.1:c.*387dup NP_001159647.1:n.*387dup
NM_001166176.1:c.*233dup NP_001159648.1:n.*233dup
NM_004387.3:c.434dup NP_004378.1:p.Ser146LeufsTer7
NM_004387.4:c.434dup MANE Select NP_004378.1:p.Ser146LeufsTer7
NM_001166175.2:c.*387dup NP_001159647.1:n.*387dup
NM_001166176.2:c.*233dup NP_001159648.1:n.*233dup
Search 100 bp 5'
Search 100 bp 3'