Canonical Allele Identifier: CA2318218222
Gene: PEAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274676_2274682delinsAGAAAGT , CM000681.2:g.2274676_2274682delinsAGAAAGT GRCh38
NC_000019.9:g.2274675_2274681delinsAGAAAGT , CM000681.1:g.2274675_2274681delinsAGAAAGT GRCh37
NC_000019.8:g.2225675_2225681delinsAGAAAGT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*998_*1004delinsACTTTCT MANE Select ENSP00000345102.3:n.*998_*1004delinsACTTTCT
ENST00000342063.4:c.*998_*1004delinsACTTTCT ENSP00000345102.3:n.*998_*1004delinsACTTTCT
ENST00000621615.1:c.146+4932_146+4938delinsAGAAAGT ENSP00000481965.1:n.146+4932_146+4938delinsAGAAAGT
NM_198532.2:c.*998_*1004delinsACTTTCT NP_940934.1:n.*998_*1004delinsACTTTCT
NM_198532.3:c.*998_*1004delinsACTTTCT MANE Select NP_940934.1:n.*998_*1004delinsACTTTCT