Canonical Allele Identifier: CA2680956464

Gene: SERAC1

Linked Data

• gnomAD v4: 6-158114688-T-TTATAGAATGAGATAATACATTCGAGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114692_158114693insGAATGAGATAATACATTCGAGGAATATA , CM000668.2:g.158114692_158114693insGAATGAGATAATACATTCGAGGAATATA	GRCh38
NC_000006.11:g.158535724_158535725insGAATGAGATAATACATTCGAGGAATATA , CM000668.1:g.158535724_158535725insGAATGAGATAATACATTCGAGGAATATA	GRCh37
NC_000006.10:g.158455712_158455713insGAATGAGATAATACATTCGAGGAATATA	NCBI36
NG_032889.1:g.58592_58593insTTCCTCGAATGTATTATCTCATTCTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1404+100_*1404+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000475855.1:n.*1404+100_*1404+101insTTCCTCGAATGTATTATCT...
ENST00000642244.1:c.1594+100_1594+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000493554.1:n.1594+100_1594+101insTTCCTCGAATGTATTATCTCA...
ENST00000642903.1:c.*20_*21insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000493559.1:n.*20_*21insTTCCTCGAATGTATTATCTCATTCTATA
ENST00000644972.1:c.1684+100_1684+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000496451.1:n.1684+100_1684+101insTTCCTCGAATGTATTATCTCA...
ENST00000645077.1:c.*1305+100_*1305+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000496113.1:n.*1305+100_*1305+101insTTCCTCGAATGTATTATCT...
ENST00000645172.1:c.*1386+100_*1386+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000495367.1:n.*1386+100_*1386+101insTTCCTCGAATGTATTATCT...
ENST00000646190.1:n.3015+100_3015+101insTTCCTCGAATGTATTATCTCATTCTATA
ENST00000646208.1:c.1420+100_1420+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000493723.1:n.1420+100_1420+101insTTCCTCGAATGTATTATCTCA...
ENST00000646410.1:c.1555+100_1555+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000494205.1:n.1555+100_1555+101insTTCCTCGAATGTATTATCTCA...
ENST00000646562.1:c.*1618_*1619insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000496087.1:n.*1618_*1619insTTCCTCGAATGTATTATCTCATTCTAT...
ENST00000647468.2:c.1684+100_1684+101insTTCCTCGAATGTATTATCTCATTCTATA MANE Select	ENSP00000496731.1:n.1684+100_1684+101insTTCCTCGAATGTATTATCTCA...
ENST00000648111.1:c.*1372+100_*1372+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000497275.1:n.*1372+100_*1372+101insTTCCTCGAATGTATTATCT...
ENST00000367104.7:c.1684+100_1684+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000356071.3:n.1684+100_1684+101insTTCCTCGAATGTATTATCTCA...
ENST00000606965.5:c.*345_*346insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000475808.1:n.*345_*346insTTCCTCGAATGTATTATCTCATTCTATA
ENST00000607071.5:c.*1618+100_*1618+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000475855.1:n.*1618+100_*1618+101insTTCCTCGAATGTATTATCT...
ENST00000607742.5:c.*2962+100_*2962+101insTTCCTCGAATGTATTATCTCATTCTATA	ENSP00000475523.1:n.*2962+100_*2962+101insTTCCTCGAATGTATTATCT...
NM_032861.3:c.1684+100_1684+101insTTCCTCGAATGTATTATCTCATTCTATA	NP_116250.3:n.1684+100_1684+101insTTCCTCGAATGTATTATCTCATTCTAT...
NR_073096.1:n.1717_1718insTTCCTCGAATGTATTATCTCATTCTATA
XM_006715586.1:c.1474+100_1474+101insTTCCTCGAATGTATTATCTCATTCTATA	XP_006715649.1:n.1474+100_1474+101insTTCCTCGAATGTATTATCTCATTC...
XM_011536196.1:c.1663+100_1663+101insTTCCTCGAATGTATTATCTCATTCTATA	XP_011534498.1:n.1663+100_1663+101insTTCCTCGAATGTATTATCTCATTC...
XM_011536197.1:c.1570+100_1570+101insTTCCTCGAATGTATTATCTCATTCTATA	XP_011534499.1:n.1570+100_1570+101insTTCCTCGAATGTATTATCTCATTC...
XM_011536198.1:c.1474+100_1474+101insTTCCTCGAATGTATTATCTCATTCTATA	XP_011534500.1:n.1474+100_1474+101insTTCCTCGAATGTATTATCTCATTC...
XM_006715586.3:c.1474+100_1474+101insTTCCTCGAATGTATTATCTCATTCTATA	XP_006715649.1:n.1474+100_1474+101insTTCCTCGAATGTATTATCTCATTC...
XM_011536196.3:c.1663+100_1663+101insTTCCTCGAATGTATTATCTCATTCTATA	XP_011534498.1:n.1663+100_1663+101insTTCCTCGAATGTATTATCTCATTC...
XM_011536198.3:c.1474+100_1474+101insTTCCTCGAATGTATTATCTCATTCTATA	XP_011534500.1:n.1474+100_1474+101insTTCCTCGAATGTATTATCTCATTC...
XM_024446573.1:c.1684+100_1684+101insTTCCTCGAATGTATTATCTCATTCTATA	XP_024302341.1:n.1684+100_1684+101insTTCCTCGAATGTATTATCTCATTC...
XR_001743697.2:n.1715+100_1715+101insTTCCTCGAATGTATTATCTCATTCTATA
XR_942606.2:n.1766+100_1766+101insTTCCTCGAATGTATTATCTCATTCTATA
NM_032861.4:c.1684+100_1684+101insTTCCTCGAATGTATTATCTCATTCTATA MANE Select	NP_116250.3:n.1684+100_1684+101insTTCCTCGAATGTATTATCTCATTCTAT...
NR_073096.2:n.1699_1700insTTCCTCGAATGTATTATCTCATTCTATA