Canonical Allele Identifier: CA1261057291

Gene: NAT8 ALMS1P1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641351_73641352delinsTC , CM000664.2:g.73641351_73641352delinsTC	GRCh38
NC_000002.11:g.73868478_73868479delinsTC , CM000664.1:g.73868478_73868479delinsTC	GRCh37
NC_000002.10:g.73721986_73721987delinsTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.277_278delinsGA (NAT8) MANE Select	ENSP00000272425.3:p.Asp93=
ENST00000652439.1:n.243+26_243+27delinsTC (ALMS1P1)
ENST00000272425.3:c.277_278delinsGA (NAT8)	ENSP00000272425.3:p.Asp93=
NM_003960.3:c.277_278delinsGA (NAT8)	NP_003951.3:p.Asp93=
NM_003960.4:c.277_278delinsGA (NAT8) MANE Select	NP_003951.3:p.Asp93=