Canonical Allele Identifier: CA1601615650

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232514_173232515delinsGT , CM000667.2:g.173232514_173232515delinsGT	GRCh38
NC_000005.9:g.172659517_172659518delinsGT , CM000667.1:g.172659517_172659518delinsGT	GRCh37
NC_000005.8:g.172592123_172592124delinsGT	NCBI36
NG_013340.1:g.7798_7799delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*54_*55delinsAC MANE Select	ENSP00000327758.4:n.*54_*55delinsAC
ENST00000329198.4:c.*54_*55delinsAC	ENSP00000327758.4:n.*54_*55delinsAC
NM_001166175.1:c.*982_*983delinsAC	NP_001159647.1:n.*982_*983delinsAC
NM_001166176.1:c.*828_*829delinsAC	NP_001159648.1:n.*828_*829delinsAC
NM_004387.3:c.*54_*55delinsAC	NP_004378.1:n.*54_*55delinsAC
NM_004387.4:c.*54_*55delinsAC MANE Select	NP_004378.1:n.*54_*55delinsAC
NM_001166175.2:c.*982_*983delinsAC	NP_001159647.1:n.*982_*983delinsAC
NM_001166176.2:c.*828_*829delinsAC	NP_001159648.1:n.*828_*829delinsAC