Canonical Allele Identifier: CA4070971

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 1214073
• ClinVar RCV Id: RCV001580834
• dbSNP Id: rs570922106
• ExAC: 6:158535729 G / GAGATAATACATTCAAGGAATATAAAATA
• gnomAD v2: 6-158535729-G-GAGATAATACATTCAAGGAATATAAAATA
• gnomAD v3: 6-158114697-G-GAGATAATACATTCAAGGAATATAAAATA
• gnomAD v4: 6-158114697-G-GAGATAATACATTCAAGGAATATAAAATA
• MyVariant Identifiers: chr6:g.158535729_158535730insAGATAATACATTCAAGGAATATAAAATA (hg19) ; chr6:g.158114697_158114698insAGATAATACATTCAAGGAATATAAAATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114716_158114717insTATAAAATAAGATAATACATTCAAGGAA , CM000668.2:g.158114716_158114717insTATAAAATAAGATAATACATTCAAGGAA	GRCh38
NC_000006.11:g.158535748_158535749insTATAAAATAAGATAATACATTCAAGGAA , CM000668.1:g.158535748_158535749insTATAAAATAAGATAATACATTCAAGGAA	GRCh37
NC_000006.10:g.158455736_158455737insTATAAAATAAGATAATACATTCAAGGAA	NCBI36
NG_032889.1:g.58583_58584insTATTTTATATTCCTTGAATGTATTATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1404+91_*1404+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000475855.1:n.*1404+91_*1404+92insTATTTTATATTCCTTGAATGT...
ENST00000642244.1:c.1594+91_1594+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000493554.1:n.1594+91_1594+92insTATTTTATATTCCTTGAATGTAT...
ENST00000642903.1:c.*11_*12insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000493559.1:n.*11_*12insTATTTTATATTCCTTGAATGTATTATCT
ENST00000644972.1:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000496451.1:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTAT...
ENST00000645077.1:c.*1305+91_*1305+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000496113.1:n.*1305+91_*1305+92insTATTTTATATTCCTTGAATGT...
ENST00000645172.1:c.*1386+91_*1386+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000495367.1:n.*1386+91_*1386+92insTATTTTATATTCCTTGAATGT...
ENST00000646190.1:n.3015+91_3015+92insTATTTTATATTCCTTGAATGTATTATCT
ENST00000646208.1:c.1420+91_1420+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000493723.1:n.1420+91_1420+92insTATTTTATATTCCTTGAATGTAT...
ENST00000646410.1:c.1555+91_1555+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000494205.1:n.1555+91_1555+92insTATTTTATATTCCTTGAATGTAT...
ENST00000646562.1:c.*1609_*1610insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000496087.1:n.*1609_*1610insTATTTTATATTCCTTGAATGTATTATC...
ENST00000647468.2:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT MANE Select	ENSP00000496731.1:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTAT...
ENST00000648111.1:c.*1372+91_*1372+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000497275.1:n.*1372+91_*1372+92insTATTTTATATTCCTTGAATGT...
ENST00000367104.7:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000356071.3:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTAT...
ENST00000435180.5:c.500_501insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000391168.1:n.500_501insTATTTTATATTCCTTGAATGTATTATCT
ENST00000606965.5:c.*336_*337insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000475808.1:n.*336_*337insTATTTTATATTCCTTGAATGTATTATCT
ENST00000607071.5:c.*1618+91_*1618+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000475855.1:n.*1618+91_*1618+92insTATTTTATATTCCTTGAATGT...
ENST00000607742.5:c.*2962+91_*2962+92insTATTTTATATTCCTTGAATGTATTATCT	ENSP00000475523.1:n.*2962+91_*2962+92insTATTTTATATTCCTTGAATGT...
NM_032861.3:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT	NP_116250.3:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT
NR_073096.1:n.1708_1709insTATTTTATATTCCTTGAATGTATTATCT
XM_006715586.1:c.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTATCT	XP_006715649.1:n.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTAT...
XM_011536196.1:c.1663+91_1663+92insTATTTTATATTCCTTGAATGTATTATCT	XP_011534498.1:n.1663+91_1663+92insTATTTTATATTCCTTGAATGTATTAT...
XM_011536197.1:c.1570+91_1570+92insTATTTTATATTCCTTGAATGTATTATCT	XP_011534499.1:n.1570+91_1570+92insTATTTTATATTCCTTGAATGTATTAT...
XM_011536198.1:c.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTATCT	XP_011534500.1:n.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTAT...
XM_006715586.3:c.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTATCT	XP_006715649.1:n.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTAT...
XM_011536196.3:c.1663+91_1663+92insTATTTTATATTCCTTGAATGTATTATCT	XP_011534498.1:n.1663+91_1663+92insTATTTTATATTCCTTGAATGTATTAT...
XM_011536198.3:c.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTATCT	XP_011534500.1:n.1474+91_1474+92insTATTTTATATTCCTTGAATGTATTAT...
XM_024446573.1:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT	XP_024302341.1:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTAT...
XR_001743697.2:n.1715+91_1715+92insTATTTTATATTCCTTGAATGTATTATCT
XR_942606.2:n.1766+91_1766+92insTATTTTATATTCCTTGAATGTATTATCT
NM_032861.4:c.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT MANE Select	NP_116250.3:n.1684+91_1684+92insTATTTTATATTCCTTGAATGTATTATCT
NR_073096.2:n.1690_1691insTATTTTATATTCCTTGAATGTATTATCT