Canonical Allele Identifier: CA993703013

Gene: NACC1

Linked Data

• gnomAD v3: 19-13136213-T-TCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC
• gnomAD v4: 19-13136213-T-TCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13136213_13136214insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC , CM000681.2:g.13136213_13136214insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC	GRCh38
NC_000019.9:g.13247027_13247028insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC , CM000681.1:g.13247027_13247028insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC	GRCh37
NC_000019.8:g.13108027_13108028insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC	ENSP00000467120.2:n.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCG...
ENST00000700232.1:c.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC	ENSP00000514870.1:n.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCG...
ENST00000292431.5:c.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC MANE Select	ENSP00000292431.3:n.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCG...
ENST00000292431.4:c.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC	ENSP00000292431.3:n.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCG...
NM_052876.3:c.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC	NP_443108.1:n.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCAT...
XM_005259721.2:c.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC	XP_005259778.1:n.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGT...
XM_005259721.3:c.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC	XP_005259778.1:n.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGT...
NM_052876.4:c.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC MANE Select	NP_443108.1:n.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCAT...