Canonical Allele Identifier: CA992609043

Gene: PEAK3

Linked Data

• dbSNP Id: rs59367985
• gnomAD v3: 19-2274931-CAAAAAAAAAAAAAAA-C
• gnomAD v4: 19-2274931-CAAAAAAAAAAAAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274939_2274953del , CM000681.2:g.2274939_2274953del	GRCh38
NC_000019.9:g.2274938_2274952del , CM000681.1:g.2274938_2274952del	GRCh37
NC_000019.8:g.2225938_2225952del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*734_*748del MANE Select	ENSP00000345102.3:n.*734_*748del
ENST00000342063.4:c.*734_*748del	ENSP00000345102.3:n.*734_*748del
ENST00000621615.1:c.146+5195_146+5209del	ENSP00000481965.1:n.146+5195_146+5209del
NM_198532.2:c.*734_*748del	NP_940934.1:n.*734_*748del
NM_198532.3:c.*734_*748del MANE Select	NP_940934.1:n.*734_*748del