Canonical Allele Identifier: CA2555874507
Gene: PEAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274953_2274954insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000681.2:g.2274953_2274954insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GRCh38
NC_000019.9:g.2274952_2274953insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000681.1:g.2274952_2274953insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GRCh37
NC_000019.8:g.2225952_2225953insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*748_*749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select ENSP00000345102.3:n.*748_*749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000342063.4:c.*748_*749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000345102.3:n.*748_*749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000621615.1:c.146+5209_146+5210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000481965.1:n.146+5209_146+5210insAAAAAAAAAAAAAAAAAAAAA...
NM_198532.2:c.*748_*749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_940934.1:n.*748_*749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_198532.3:c.*748_*749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select NP_940934.1:n.*748_*749insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...