Canonical Allele Identifier: CA571904277

Gene: SERAC1

Linked Data

• dbSNP Id: rs1172563189
• gnomAD v2: 6-158535915-AT-A
• gnomAD v4: 6-158114883-AT-A
• MyVariant Identifiers: chr6:g.158535916del (hg19) ; chr6:g.158114884del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114884del , CM000668.2:g.158114884del	GRCh38
NC_000006.11:g.158535916del , CM000668.1:g.158535916del	GRCh37
NC_000006.10:g.158455904del	NCBI36
NG_032889.1:g.58397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.801del	ENSP00000391168.2:n.801del
ENST00000607071.6:c.*1309del	ENSP00000475855.1:n.*1309del
ENST00000642244.1:c.1499del	ENSP00000493554.1:p.Tyr500LeufsTer?
ENST00000642903.1:c.1589del	ENSP00000493559.1:p.Tyr530LeufsTer?
ENST00000644972.1:c.1589del	ENSP00000496451.1:p.Tyr530LeufsTer?
ENST00000645077.1:c.*1210del	ENSP00000496113.1:n.*1210del
ENST00000645172.1:c.*1291del	ENSP00000495367.1:n.*1291del
ENST00000646190.1:n.2920del
ENST00000646208.1:c.1325del	ENSP00000493723.1:p.Tyr442LeufsTer?
ENST00000646410.1:c.1460del	ENSP00000494205.1:p.Tyr487LeufsTer?
ENST00000646562.1:c.*1423del	ENSP00000496087.1:n.*1423del
ENST00000647468.2:c.1589del MANE Select	ENSP00000496731.1:p.Tyr530LeufsTer?
ENST00000648111.1:c.*1277del	ENSP00000497275.1:n.*1277del
ENST00000367101.5:c.*37del	ENSP00000356068.1:n.*37del
ENST00000367104.7:c.1589del	ENSP00000356071.3:p.Tyr530LeufsTer?
ENST00000435180.5:c.314del	ENSP00000391168.1:p.Tyr105LeufsTer?
ENST00000606965.5:c.*150del	ENSP00000475808.1:n.*150del
ENST00000607071.5:c.*1523del	ENSP00000475855.1:n.*1523del
ENST00000607742.5:c.*2867del	ENSP00000475523.1:n.*2867del
NM_032861.3:c.1589del	NP_116250.3:p.Tyr530LeufsTer?
NR_073096.1:n.1522del
XM_006715586.1:c.1379del	XP_006715649.1:p.Tyr460LeufsTer?
XM_011536196.1:c.1568del	XP_011534498.1:p.Tyr523LeufsTer?
XM_011536197.1:c.1475del	XP_011534499.1:p.Tyr492LeufsTer?
XM_011536198.1:c.1379del	XP_011534500.1:p.Tyr460LeufsTer?
XM_006715586.3:c.1379del	XP_006715649.1:p.Tyr460LeufsTer?
XM_011536196.3:c.1568del	XP_011534498.1:p.Tyr523LeufsTer?
XM_011536198.3:c.1379del	XP_011534500.1:p.Tyr460LeufsTer?
XM_024446573.1:c.1589del	XP_024302341.1:p.Tyr530LeufsTer?
XR_001743697.2:n.1620del
XR_942606.2:n.1671del
NM_032861.4:c.1589del MANE Select	NP_116250.3:p.Tyr530LeufsTer?
NR_073096.2:n.1504del