Canonical Allele Identifier: CA1601615635
Gene: NKX2-5 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232503_173232507delinsTCCCC , CM000667.2:g.173232503_173232507delinsTCCCC GRCh38
NC_000005.9:g.172659506_172659510delinsTCCCC , CM000667.1:g.172659506_172659510delinsTCCCC GRCh37
NC_000005.8:g.172592112_172592116delinsTCCCC NCBI36
NG_013340.1:g.7806_7810delinsGGGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*62_*66delinsGGGGA MANE Select ENSP00000327758.4:n.*62_*66delinsGGGGA
ENST00000329198.4:c.*62_*66delinsGGGGA ENSP00000327758.4:n.*62_*66delinsGGGGA
NM_001166175.1:c.*990_*994delinsGGGGA NP_001159647.1:n.*990_*994delinsGGGGA
NM_001166176.1:c.*836_*840delinsGGGGA NP_001159648.1:n.*836_*840delinsGGGGA
NM_004387.3:c.*62_*66delinsGGGGA NP_004378.1:n.*62_*66delinsGGGGA
NM_004387.4:c.*62_*66delinsGGGGA MANE Select NP_004378.1:n.*62_*66delinsGGGGA
NM_001166175.2:c.*990_*994delinsGGGGA NP_001159647.1:n.*990_*994delinsGGGGA
NM_001166176.2:c.*836_*840delinsGGGGA NP_001159648.1:n.*836_*840delinsGGGGA
Search 100 bp 5'
Search 100 bp 3'