Canonical Allele Identifier: CA571467212

Gene: SERAC1

Linked Data

• dbSNP Id: rs1262782555
• gnomAD v2: 6-158535745-G-GGAATATAAAATGAGATAATACATTCAAA
• gnomAD v3: 6-158114713-G-GGAATATAAAATGAGATAATACATTCAAA
• gnomAD v4: 6-158114713-G-GGAATATAAAATGAGATAATACATTCAAA
• MyVariant Identifiers: chr6:g.158535745_158535746insGAATATAAAATGAGATAATACATTCAAA (hg19) ; chr6:g.158114713_158114714insGAATATAAAATGAGATAATACATTCAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114716_158114717insTATAAAATGAGATAATACATTCAAAGAA , CM000668.2:g.158114716_158114717insTATAAAATGAGATAATACATTCAAAGAA	GRCh38
NC_000006.11:g.158535748_158535749insTATAAAATGAGATAATACATTCAAAGAA , CM000668.1:g.158535748_158535749insTATAAAATGAGATAATACATTCAAAGAA	GRCh37
NC_000006.10:g.158455736_158455737insTATAAAATGAGATAATACATTCAAAGAA	NCBI36
NG_032889.1:g.58567_58568insTTTGAATGTATTATCTCATTTTATATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1404+75_*1404+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000475855.1:n.*1404+75_*1404+76insTTTGAATGTATTATCTCATTT...
ENST00000642244.1:c.1594+75_1594+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000493554.1:n.1594+75_1594+76insTTTGAATGTATTATCTCATTTTA...
ENST00000642903.1:c.1759_1760insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000493559.1:p.Pro587LeufsTer2
ENST00000644972.1:c.1684+75_1684+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000496451.1:n.1684+75_1684+76insTTTGAATGTATTATCTCATTTTA...
ENST00000645077.1:c.*1305+75_*1305+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000496113.1:n.*1305+75_*1305+76insTTTGAATGTATTATCTCATTT...
ENST00000645172.1:c.*1386+75_*1386+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000495367.1:n.*1386+75_*1386+76insTTTGAATGTATTATCTCATTT...
ENST00000646190.1:n.3015+75_3015+76insTTTGAATGTATTATCTCATTTTATATTC
ENST00000646208.1:c.1420+75_1420+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000493723.1:n.1420+75_1420+76insTTTGAATGTATTATCTCATTTTA...
ENST00000646410.1:c.1555+75_1555+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000494205.1:n.1555+75_1555+76insTTTGAATGTATTATCTCATTTTA...
ENST00000646562.1:c.*1593_*1594insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000496087.1:n.*1593_*1594insTTTGAATGTATTATCTCATTTTATATT...
ENST00000647468.2:c.1684+75_1684+76insTTTGAATGTATTATCTCATTTTATATTC MANE Select	ENSP00000496731.1:n.1684+75_1684+76insTTTGAATGTATTATCTCATTTTA...
ENST00000648111.1:c.*1372+75_*1372+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000497275.1:n.*1372+75_*1372+76insTTTGAATGTATTATCTCATTT...
ENST00000367104.7:c.1684+75_1684+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000356071.3:n.1684+75_1684+76insTTTGAATGTATTATCTCATTTTA...
ENST00000435180.5:c.484_485insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000391168.1:p.Pro162LeufsTer2
ENST00000606965.5:c.*320_*321insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000475808.1:n.*320_*321insTTTGAATGTATTATCTCATTTTATATTC
ENST00000607071.5:c.*1618+75_*1618+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000475855.1:n.*1618+75_*1618+76insTTTGAATGTATTATCTCATTT...
ENST00000607742.5:c.*2962+75_*2962+76insTTTGAATGTATTATCTCATTTTATATTC	ENSP00000475523.1:n.*2962+75_*2962+76insTTTGAATGTATTATCTCATTT...
NM_032861.3:c.1684+75_1684+76insTTTGAATGTATTATCTCATTTTATATTC	NP_116250.3:n.1684+75_1684+76insTTTGAATGTATTATCTCATTTTATATTC
NR_073096.1:n.1692_1693insTTTGAATGTATTATCTCATTTTATATTC
XM_006715586.1:c.1474+75_1474+76insTTTGAATGTATTATCTCATTTTATATTC	XP_006715649.1:n.1474+75_1474+76insTTTGAATGTATTATCTCATTTTATAT...
XM_011536196.1:c.1663+75_1663+76insTTTGAATGTATTATCTCATTTTATATTC	XP_011534498.1:n.1663+75_1663+76insTTTGAATGTATTATCTCATTTTATAT...
XM_011536197.1:c.1570+75_1570+76insTTTGAATGTATTATCTCATTTTATATTC	XP_011534499.1:n.1570+75_1570+76insTTTGAATGTATTATCTCATTTTATAT...
XM_011536198.1:c.1474+75_1474+76insTTTGAATGTATTATCTCATTTTATATTC	XP_011534500.1:n.1474+75_1474+76insTTTGAATGTATTATCTCATTTTATAT...
XM_006715586.3:c.1474+75_1474+76insTTTGAATGTATTATCTCATTTTATATTC	XP_006715649.1:n.1474+75_1474+76insTTTGAATGTATTATCTCATTTTATAT...
XM_011536196.3:c.1663+75_1663+76insTTTGAATGTATTATCTCATTTTATATTC	XP_011534498.1:n.1663+75_1663+76insTTTGAATGTATTATCTCATTTTATAT...
XM_011536198.3:c.1474+75_1474+76insTTTGAATGTATTATCTCATTTTATATTC	XP_011534500.1:n.1474+75_1474+76insTTTGAATGTATTATCTCATTTTATAT...
XM_024446573.1:c.1684+75_1684+76insTTTGAATGTATTATCTCATTTTATATTC	XP_024302341.1:n.1684+75_1684+76insTTTGAATGTATTATCTCATTTTATAT...
XR_001743697.2:n.1715+75_1715+76insTTTGAATGTATTATCTCATTTTATATTC
XR_942606.2:n.1766+75_1766+76insTTTGAATGTATTATCTCATTTTATATTC
NM_032861.4:c.1684+75_1684+76insTTTGAATGTATTATCTCATTTTATATTC MANE Select	NP_116250.3:n.1684+75_1684+76insTTTGAATGTATTATCTCATTTTATATTC
NR_073096.2:n.1674_1675insTTTGAATGTATTATCTCATTTTATATTC