Canonical Allele Identifier: CA993703017

Gene: NACC1

Linked Data

• gnomAD v3: 19-13136219-T-TCGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCG
• gnomAD v4: 19-13136219-T-TCGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13136220_13136221insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC , CM000681.2:g.13136220_13136221insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC	GRCh38
NC_000019.9:g.13247034_13247035insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC , CM000681.1:g.13247034_13247035insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC	GRCh37
NC_000019.8:g.13108034_13108035insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC	ENSP00000467120.2:n.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCA...
ENST00000700232.1:c.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC	ENSP00000514870.1:n.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCA...
ENST00000292431.5:c.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC MANE Select	ENSP00000292431.3:n.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCA...
ENST00000292431.4:c.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC	ENSP00000292431.3:n.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCA...
NM_052876.3:c.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC	NP_443108.1:n.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCT...
XM_005259721.2:c.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC	XP_005259778.1:n.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACG...
XM_005259721.3:c.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC	XP_005259778.1:n.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACG...
NM_052876.4:c.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC MANE Select	NP_443108.1:n.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCT...