Canonical Allele Identifier: CA2676542146
Gene: NKX2-5 HGNC NCBI

Linked Data

gnomAD v4: 5-173232515-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232516dup , CM000667.2:g.173232516dup GRCh38
NC_000005.9:g.172659519dup , CM000667.1:g.172659519dup GRCh37
NC_000005.8:g.172592125dup NCBI36
NG_013340.1:g.7797dup

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*53dup MANE Select ENSP00000327758.4:n.*53dup
ENST00000329198.4:c.*53dup ENSP00000327758.4:n.*53dup
NM_001166175.1:c.*981dup NP_001159647.1:n.*981dup
NM_001166176.1:c.*827dup NP_001159648.1:n.*827dup
NM_004387.3:c.*53dup NP_004378.1:n.*53dup
NM_004387.4:c.*53dup MANE Select NP_004378.1:n.*53dup
NM_001166175.2:c.*981dup NP_001159647.1:n.*981dup
NM_001166176.2:c.*827dup NP_001159648.1:n.*827dup
Search 100 bp 5'
Search 100 bp 3'