Canonical Allele Identifier: CA2211968494
Gene: ACSM5 HGNC NCBI

Linked Data

dbSNP Id: rs1967239994
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20438134_20438135del , CM000678.2:g.20438134_20438135del GRCh38
NC_000016.9:g.20449456_20449457del , CM000678.1:g.20449456_20449457del GRCh37
NC_000016.8:g.20356957_20356958del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331849.8:c.1536+767_1536+768del MANE Select ENSP00000327916.4:n.1536+767_1536+768del
ENST00000577024.1:n.449+767_449+768del
NM_017888.2:c.1536+767_1536+768del NP_060358.2:n.1536+767_1536+768del
XM_006721055.2:c.1536+767_1536+768del XP_006721118.1:n.1536+767_1536+768del
XM_006721056.2:c.1536+767_1536+768del XP_006721119.1:n.1536+767_1536+768del
NM_001324371.1:c.1536+767_1536+768del NP_001311300.1:n.1536+767_1536+768del
NM_001324372.1:c.1536+767_1536+768del NP_001311301.1:n.1536+767_1536+768del
NM_017888.3:c.1536+767_1536+768del MANE Select NP_060358.2:n.1536+767_1536+768del
NM_001324371.2:c.1536+767_1536+768del NP_001311300.1:n.1536+767_1536+768del
NM_001324372.2:c.1536+767_1536+768del NP_001311301.1:n.1536+767_1536+768del
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