Canonical Allele Identifier: CA2680956629

Gene: SERAC1

Linked Data

• gnomAD v4: 6-158114711-A-AAGGAATATAAAATGAGATAATACATTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114716_158114717insTATAAAATGAGATAATACATTCTAGGAA , CM000668.2:g.158114716_158114717insTATAAAATGAGATAATACATTCTAGGAA	GRCh38
NC_000006.11:g.158535748_158535749insTATAAAATGAGATAATACATTCTAGGAA , CM000668.1:g.158535748_158535749insTATAAAATGAGATAATACATTCTAGGAA	GRCh37
NC_000006.10:g.158455736_158455737insTATAAAATGAGATAATACATTCTAGGAA	NCBI36
NG_032889.1:g.58569_58570insAGAATGTATTATCTCATTTTATATTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1404+77_*1404+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000475855.1:n.*1404+77_*1404+78insAGAATGTATTATCTCATTTTA...
ENST00000642244.1:c.1594+77_1594+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000493554.1:n.1594+77_1594+78insAGAATGTATTATCTCATTTTATA...
ENST00000642903.1:c.1761_1762insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000493559.1:p.Ter588ArgextTer21
ENST00000644972.1:c.1684+77_1684+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000496451.1:n.1684+77_1684+78insAGAATGTATTATCTCATTTTATA...
ENST00000645077.1:c.*1305+77_*1305+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000496113.1:n.*1305+77_*1305+78insAGAATGTATTATCTCATTTTA...
ENST00000645172.1:c.*1386+77_*1386+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000495367.1:n.*1386+77_*1386+78insAGAATGTATTATCTCATTTTA...
ENST00000646190.1:n.3015+77_3015+78insAGAATGTATTATCTCATTTTATATTCCT
ENST00000646208.1:c.1420+77_1420+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000493723.1:n.1420+77_1420+78insAGAATGTATTATCTCATTTTATA...
ENST00000646410.1:c.1555+77_1555+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000494205.1:n.1555+77_1555+78insAGAATGTATTATCTCATTTTATA...
ENST00000646562.1:c.*1595_*1596insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000496087.1:n.*1595_*1596insAGAATGTATTATCTCATTTTATATTCC...
ENST00000647468.2:c.1684+77_1684+78insAGAATGTATTATCTCATTTTATATTCCT MANE Select	ENSP00000496731.1:n.1684+77_1684+78insAGAATGTATTATCTCATTTTATA...
ENST00000648111.1:c.*1372+77_*1372+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000497275.1:n.*1372+77_*1372+78insAGAATGTATTATCTCATTTTA...
ENST00000367104.7:c.1684+77_1684+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000356071.3:n.1684+77_1684+78insAGAATGTATTATCTCATTTTATA...
ENST00000435180.5:c.486_487insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000391168.1:p.Ter163ArgextTer?
ENST00000606965.5:c.*322_*323insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000475808.1:n.*322_*323insAGAATGTATTATCTCATTTTATATTCCT
ENST00000607071.5:c.*1618+77_*1618+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000475855.1:n.*1618+77_*1618+78insAGAATGTATTATCTCATTTTA...
ENST00000607742.5:c.*2962+77_*2962+78insAGAATGTATTATCTCATTTTATATTCCT	ENSP00000475523.1:n.*2962+77_*2962+78insAGAATGTATTATCTCATTTTA...
NM_032861.3:c.1684+77_1684+78insAGAATGTATTATCTCATTTTATATTCCT	NP_116250.3:n.1684+77_1684+78insAGAATGTATTATCTCATTTTATATTCCT
NR_073096.1:n.1694_1695insAGAATGTATTATCTCATTTTATATTCCT
XM_006715586.1:c.1474+77_1474+78insAGAATGTATTATCTCATTTTATATTCCT	XP_006715649.1:n.1474+77_1474+78insAGAATGTATTATCTCATTTTATATTC...
XM_011536196.1:c.1663+77_1663+78insAGAATGTATTATCTCATTTTATATTCCT	XP_011534498.1:n.1663+77_1663+78insAGAATGTATTATCTCATTTTATATTC...
XM_011536197.1:c.1570+77_1570+78insAGAATGTATTATCTCATTTTATATTCCT	XP_011534499.1:n.1570+77_1570+78insAGAATGTATTATCTCATTTTATATTC...
XM_011536198.1:c.1474+77_1474+78insAGAATGTATTATCTCATTTTATATTCCT	XP_011534500.1:n.1474+77_1474+78insAGAATGTATTATCTCATTTTATATTC...
XM_006715586.3:c.1474+77_1474+78insAGAATGTATTATCTCATTTTATATTCCT	XP_006715649.1:n.1474+77_1474+78insAGAATGTATTATCTCATTTTATATTC...
XM_011536196.3:c.1663+77_1663+78insAGAATGTATTATCTCATTTTATATTCCT	XP_011534498.1:n.1663+77_1663+78insAGAATGTATTATCTCATTTTATATTC...
XM_011536198.3:c.1474+77_1474+78insAGAATGTATTATCTCATTTTATATTCCT	XP_011534500.1:n.1474+77_1474+78insAGAATGTATTATCTCATTTTATATTC...
XM_024446573.1:c.1684+77_1684+78insAGAATGTATTATCTCATTTTATATTCCT	XP_024302341.1:n.1684+77_1684+78insAGAATGTATTATCTCATTTTATATTC...
XR_001743697.2:n.1715+77_1715+78insAGAATGTATTATCTCATTTTATATTCCT
XR_942606.2:n.1766+77_1766+78insAGAATGTATTATCTCATTTTATATTCCT
NM_032861.4:c.1684+77_1684+78insAGAATGTATTATCTCATTTTATATTCCT MANE Select	NP_116250.3:n.1684+77_1684+78insAGAATGTATTATCTCATTTTATATTCCT
NR_073096.2:n.1676_1677insAGAATGTATTATCTCATTTTATATTCCT