Canonical Allele Identifier: CA2211968595
Gene: ACSM5 HGNC NCBI

Linked Data

dbSNP Id: rs1967244053

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20438355_20438356insGG , CM000678.2:g.20438355_20438356insGG GRCh38
NC_000016.9:g.20449677_20449678insGG , CM000678.1:g.20449677_20449678insGG GRCh37
NC_000016.8:g.20357178_20357179insGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331849.8:c.1536+988_1536+989insGG MANE Select ENSP00000327916.4:n.1536+988_1536+989insGG
ENST00000577024.1:n.449+988_449+989insGG
NM_017888.2:c.1536+988_1536+989insGG NP_060358.2:n.1536+988_1536+989insGG
XM_006721055.2:c.1536+988_1536+989insGG XP_006721118.1:n.1536+988_1536+989insGG
XM_006721056.2:c.1536+988_1536+989insGG XP_006721119.1:n.1536+988_1536+989insGG
NM_001324371.1:c.1536+988_1536+989insGG NP_001311300.1:n.1536+988_1536+989insGG
NM_001324372.1:c.1536+988_1536+989insGG NP_001311301.1:n.1536+988_1536+989insGG
NM_017888.3:c.1536+988_1536+989insGG MANE Select NP_060358.2:n.1536+988_1536+989insGG
NM_001324371.2:c.1536+988_1536+989insGG NP_001311300.1:n.1536+988_1536+989insGG
NM_001324372.2:c.1536+988_1536+989insGG NP_001311301.1:n.1536+988_1536+989insGG