Canonical Allele Identifier: CA1601615732

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232670_173232673delinsAGTT , CM000667.2:g.173232670_173232673delinsAGTT	GRCh38
NC_000005.9:g.172659673_172659676delinsAGTT , CM000667.1:g.172659673_172659676delinsAGTT	GRCh37
NC_000005.8:g.172592279_172592282delinsAGTT	NCBI36
NG_013340.1:g.7640_7643delinsAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.871_874delinsAACT MANE Select	ENSP00000327758.4:p.Asn291=
ENST00000329198.4:c.871_874delinsAACT	ENSP00000327758.4:p.Asn291=
NM_001166175.1:c.*824_*827delinsAACT	NP_001159647.1:n.*824_*827delinsAACT
NM_001166176.1:c.*670_*673delinsAACT	NP_001159648.1:n.*670_*673delinsAACT
NM_004387.3:c.871_874delinsAACT	NP_004378.1:p.Asn291=
NM_004387.4:c.871_874delinsAACT MANE Select	NP_004378.1:p.Asn291=
NM_001166175.2:c.*824_*827delinsAACT	NP_001159647.1:n.*824_*827delinsAACT
NM_001166176.2:c.*670_*673delinsAACT	NP_001159648.1:n.*670_*673delinsAACT