Canonical Allele Identifier: CA2582801192

Gene: NACC1

Linked Data

• gnomAD v4: 19-13135199-G-GCAGGAGTCGGACT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13135200_13135201insAGGAGTCGGACTC , CM000681.2:g.13135200_13135201insAGGAGTCGGACTC	GRCh38
NC_000019.9:g.13246014_13246015insAGGAGTCGGACTC , CM000681.1:g.13246014_13246015insAGGAGTCGGACTC	GRCh37
NC_000019.8:g.13107014_13107015insAGGAGTCGGACTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.-8_-7insAGGAGTCGGACTC	ENSP00000467120.2:n.-8_-7insAGGAGTCGGACTC
ENST00000700232.1:c.-8_-7insAGGAGTCGGACTC	ENSP00000514870.1:n.-8_-7insAGGAGTCGGACTC
ENST00000292431.5:c.-8_-7insAGGAGTCGGACTC MANE Select	ENSP00000292431.3:n.-8_-7insAGGAGTCGGACTC
ENST00000586171.2:c.-8_-7insAGGAGTCGGACTC	ENSP00000467120.1:n.-8_-7insAGGAGTCGGACTC
ENST00000292431.4:c.-8_-7insAGGAGTCGGACTC	ENSP00000292431.3:n.-8_-7insAGGAGTCGGACTC
ENST00000586171.1:c.-8_-7insAGGAGTCGGACTC	ENSP00000467120.1:n.-8_-7insAGGAGTCGGACTC
NM_052876.3:c.-8_-7insAGGAGTCGGACTC	NP_443108.1:n.-8_-7insAGGAGTCGGACTC
XM_005259721.2:c.-8_-7insAGGAGTCGGACTC	XP_005259778.1:n.-8_-7insAGGAGTCGGACTC
XM_005259721.3:c.-8_-7insAGGAGTCGGACTC	XP_005259778.1:n.-8_-7insAGGAGTCGGACTC
NM_052876.4:c.-8_-7insAGGAGTCGGACTC MANE Select	NP_443108.1:n.-8_-7insAGGAGTCGGACTC