Canonical Allele Identifier: CA1601615644

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232509_173232511delinsCGA , CM000667.2:g.173232509_173232511delinsCGA	GRCh38
NC_000005.9:g.172659512_172659514delinsCGA , CM000667.1:g.172659512_172659514delinsCGA	GRCh37
NC_000005.8:g.172592118_172592120delinsCGA	NCBI36
NG_013340.1:g.7802_7804delinsTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*58_*60delinsTCG MANE Select	ENSP00000327758.4:n.*58_*60delinsTCG
ENST00000329198.4:c.*58_*60delinsTCG	ENSP00000327758.4:n.*58_*60delinsTCG
NM_001166175.1:c.*986_*988delinsTCG	NP_001159647.1:n.*986_*988delinsTCG
NM_001166176.1:c.*832_*834delinsTCG	NP_001159648.1:n.*832_*834delinsTCG
NM_004387.3:c.*58_*60delinsTCG	NP_004378.1:n.*58_*60delinsTCG
NM_004387.4:c.*58_*60delinsTCG MANE Select	NP_004378.1:n.*58_*60delinsTCG
NM_001166175.2:c.*986_*988delinsTCG	NP_001159647.1:n.*986_*988delinsTCG
NM_001166176.2:c.*832_*834delinsTCG	NP_001159648.1:n.*832_*834delinsTCG