Canonical Allele Identifier: CA2523958495

Gene: PEAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274932_2274933insGAAAAAAA , CM000681.2:g.2274932_2274933insGAAAAAAA	GRCh38
NC_000019.9:g.2274931_2274932insGAAAAAAA , CM000681.1:g.2274931_2274932insGAAAAAAA	GRCh37
NC_000019.8:g.2225931_2225932insGAAAAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*748_*749insTTTTTTCT MANE Select	ENSP00000345102.3:n.*748_*749insTTTTTTCT
ENST00000342063.4:c.*748_*749insTTTTTTCT	ENSP00000345102.3:n.*748_*749insTTTTTTCT
ENST00000621615.1:c.146+5188_146+5189insGAAAAAAA	ENSP00000481965.1:n.146+5188_146+5189insGAAAAAAA
NM_198532.2:c.*748_*749insTTTTTTCT	NP_940934.1:n.*748_*749insTTTTTTCT
NM_198532.3:c.*748_*749insTTTTTTCT MANE Select	NP_940934.1:n.*748_*749insTTTTTTCT