Canonical Allele Identifier: CA975474265

Gene: ACSM5

Linked Data

• gnomAD v3: 16-20438127-T-TCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC
• gnomAD v4: 16-20438127-T-TCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20438127_20438128insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC , CM000678.2:g.20438127_20438128insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC	GRCh38
NC_000016.9:g.20449449_20449450insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC , CM000678.1:g.20449449_20449450insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC	GRCh37
NC_000016.8:g.20356950_20356951insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331849.8:c.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC MANE Select	ENSP00000327916.4:n.1536+760_1536+761insCTTTCTCTGGGACCCACAGAA...
ENST00000577024.1:n.449+760_449+761insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC
NM_017888.2:c.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC	NP_060358.2:n.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTT...
XM_006721055.2:c.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC	XP_006721118.1:n.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGA...
XM_006721056.2:c.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC	XP_006721119.1:n.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGA...
NM_001324371.1:c.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC	NP_001311300.1:n.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGA...
NM_001324372.1:c.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC	NP_001311301.1:n.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGA...
NM_017888.3:c.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC MANE Select	NP_060358.2:n.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTT...
NM_001324371.2:c.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC	NP_001311300.1:n.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGA...
NM_001324372.2:c.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGATTTCACCGTGCCCGGCC	NP_001311301.1:n.1536+760_1536+761insCTTTCTCTGGGACCCACAGAAAGA...