Canonical Allele Identifier: CA1601615809

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232791_173232792delinsGT , CM000667.2:g.173232791_173232792delinsGT	GRCh38
NC_000005.9:g.172659794_172659795delinsGT , CM000667.1:g.172659794_172659795delinsGT	GRCh37
NC_000005.8:g.172592400_172592401delinsGT	NCBI36
NG_013340.1:g.7521_7522delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.752_753delinsAC MANE Select	ENSP00000327758.4:p.Asn251=
ENST00000329198.4:c.752_753delinsAC	ENSP00000327758.4:p.Asn251=
NM_001166175.1:c.*705_*706delinsAC	NP_001159647.1:n.*705_*706delinsAC
NM_001166176.1:c.*551_*552delinsAC	NP_001159648.1:n.*551_*552delinsAC
NM_004387.3:c.752_753delinsAC	NP_004378.1:p.Asn251=
NM_004387.4:c.752_753delinsAC MANE Select	NP_004378.1:p.Asn251=
NM_001166175.2:c.*705_*706delinsAC	NP_001159647.1:n.*705_*706delinsAC
NM_001166176.2:c.*551_*552delinsAC	NP_001159648.1:n.*551_*552delinsAC