Canonical Allele Identifier: CA1601616893

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234625_173234651delinsTTCTGAACCCCCCGCCGCAGCCCAGCC , CM000667.2:g.173234625_173234651delinsTTCTGAACCCCCCGCCGCAGCCCAGCC	GRCh38
NC_000005.9:g.172661628_172661654delinsTTCTGAACCCCCCGCCGCAGCCCAGCC , CM000667.1:g.172661628_172661654delinsTTCTGAACCCCCCGCCGCAGCCCAGCC	GRCh37
NC_000005.8:g.172594234_172594260delinsTTCTGAACCCCCCGCCGCAGCCCAGCC	NCBI36
NG_013340.1:g.5662_5688delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA MANE Select	ENSP00000327758.4:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGT...
ENST00000329198.4:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA	ENSP00000327758.4:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGT...
ENST00000424406.2:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA	ENSP00000395378.2:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGT...
ENST00000517440.1:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA	ENSP00000429905.1:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGT...
ENST00000521848.1:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA	ENSP00000427906.1:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGT...
NM_001166175.1:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA	NP_001159647.1:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCA...
NM_001166176.1:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA	NP_001159648.1:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCA...
NM_004387.3:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA	NP_004378.1:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA...
XM_017009071.2:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA	XP_016864560.1:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCA...
NM_004387.4:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA MANE Select	NP_004378.1:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA...
NM_001166175.2:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA	NP_001159647.1:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCA...
NM_001166176.2:c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA	NP_001159648.1:n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCA...