Canonical Allele Identifier: CA2576641123

Gene: NACC1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13136286_13136298del , CM000681.2:g.13136286_13136298del	GRCh38
NC_000019.9:g.13247100_13247112del , CM000681.1:g.13247100_13247112del	GRCh37
NC_000019.8:g.13108100_13108112del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.1001_1013del	ENSP00000467120.2:p.Ile334LysfsTer?
ENST00000700232.1:c.1001_1013del	ENSP00000514870.1:p.Ile334LysfsTer?
ENST00000292431.5:c.1001_1013del MANE Select	ENSP00000292431.3:p.Ile334LysfsTer?
ENST00000292431.4:c.1001_1013del	ENSP00000292431.3:p.Ile334LysfsTer?
NM_052876.3:c.1001_1013del	NP_443108.1:p.Ile334LysfsTer?
XM_005259721.2:c.1001_1013del	XP_005259778.1:p.Ile334LysfsTer?
XM_005259721.3:c.1001_1013del	XP_005259778.1:p.Ile334LysfsTer?
NM_052876.4:c.1001_1013del MANE Select	NP_443108.1:p.Ile334LysfsTer?