Canonical Allele Identifier: CA1601615966

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233063_173233066delinsGCTG , CM000667.2:g.173233063_173233066delinsGCTG	GRCh38
NC_000005.9:g.172660066_172660069delinsGCTG , CM000667.1:g.172660066_172660069delinsGCTG	GRCh37
NC_000005.8:g.172592672_172592675delinsGCTG	NCBI36
NG_013340.1:g.7247_7250delinsCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.478_481delinsCAGC MANE Select	ENSP00000327758.4:p.Gln160=
ENST00000329198.4:c.478_481delinsCAGC	ENSP00000327758.4:p.Gln160=
ENST00000424406.2:c.*431_*434delinsCAGC	ENSP00000395378.2:n.*431_*434delinsCAGC
ENST00000521848.1:c.*277_*280delinsCAGC	ENSP00000427906.1:n.*277_*280delinsCAGC
NM_001166175.1:c.*431_*434delinsCAGC	NP_001159647.1:n.*431_*434delinsCAGC
NM_001166176.1:c.*277_*280delinsCAGC	NP_001159648.1:n.*277_*280delinsCAGC
NM_004387.3:c.478_481delinsCAGC	NP_004378.1:p.Gln160=
NM_004387.4:c.478_481delinsCAGC MANE Select	NP_004378.1:p.Gln160=
NM_001166175.2:c.*431_*434delinsCAGC	NP_001159647.1:n.*431_*434delinsCAGC
NM_001166176.2:c.*277_*280delinsCAGC	NP_001159648.1:n.*277_*280delinsCAGC