Canonical Allele Identifier: CA2695205816
Gene: NKX2-5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233033_173233034dup , CM000667.2:g.173233033_173233034dup GRCh38
NC_000005.9:g.172660036_172660037dup , CM000667.1:g.172660036_172660037dup GRCh37
NC_000005.8:g.172592642_172592643dup NCBI36
NG_013340.1:g.7279_7280dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.510_511dup MANE Select ENSP00000327758.4:p.Leu171ArgfsTer6
ENST00000329198.4:c.510_511dup ENSP00000327758.4:p.Leu171ArgfsTer6
ENST00000424406.2:c.*463_*464dup ENSP00000395378.2:n.*463_*464dup
ENST00000521848.1:c.*309_*310dup ENSP00000427906.1:n.*309_*310dup
NM_001166175.1:c.*463_*464dup NP_001159647.1:n.*463_*464dup
NM_001166176.1:c.*309_*310dup NP_001159648.1:n.*309_*310dup
NM_004387.3:c.510_511dup NP_004378.1:p.Leu171ArgfsTer6
NM_004387.4:c.510_511dup MANE Select NP_004378.1:p.Leu171ArgfsTer6
NM_001166175.2:c.*463_*464dup NP_001159647.1:n.*463_*464dup
NM_001166176.2:c.*309_*310dup NP_001159648.1:n.*309_*310dup
Search 100 bp 5'
Search 100 bp 3'