Canonical Allele Identifier: CA2739266214

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 2797127
• ClinVar RCV Id: RCV003646121

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114953_158114955dup , CM000668.2:g.158114953_158114955dup	GRCh38
NC_000006.11:g.158535985_158535987dup , CM000668.1:g.158535985_158535987dup	GRCh37
NC_000006.10:g.158455973_158455975dup	NCBI36
NG_032889.1:g.58327_58329dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.731_733dup	ENSP00000391168.2:n.731_733dup
ENST00000607071.6:c.*1239_*1241dup	ENSP00000475855.1:n.*1239_*1241dup
ENST00000642244.1:c.1429_1431dup	ENSP00000493554.1:p.Met477_Leu478insMet
ENST00000642903.1:c.1519_1521dup	ENSP00000493559.1:p.Met507_Leu508insMet
ENST00000644972.1:c.1519_1521dup	ENSP00000496451.1:p.Met507_Leu508insMet
ENST00000645077.1:c.*1140_*1142dup	ENSP00000496113.1:n.*1140_*1142dup
ENST00000645172.1:c.*1221_*1223dup	ENSP00000495367.1:n.*1221_*1223dup
ENST00000646190.1:n.2850_2852dup
ENST00000646208.1:c.1255_1257dup	ENSP00000493723.1:p.Met419_Leu420insMet
ENST00000646410.1:c.1390_1392dup	ENSP00000494205.1:p.Met464_Leu465insMet
ENST00000646562.1:c.*1353_*1355dup	ENSP00000496087.1:n.*1353_*1355dup
ENST00000647468.2:c.1519_1521dup MANE Select	ENSP00000496731.1:p.Met507_Leu508insMet
ENST00000648111.1:c.*1207_*1209dup	ENSP00000497275.1:n.*1207_*1209dup
ENST00000367101.5:c.1563_1565dup	ENSP00000356068.1:p.Cys522Ter
ENST00000367104.7:c.1519_1521dup	ENSP00000356071.3:p.Met507_Leu508insMet
ENST00000435180.5:c.244_246dup	ENSP00000391168.1:p.Met82_Leu83insMet
ENST00000606965.5:c.*80_*82dup	ENSP00000475808.1:n.*80_*82dup
ENST00000607071.5:c.*1453_*1455dup	ENSP00000475855.1:n.*1453_*1455dup
ENST00000607742.5:c.*2797_*2799dup	ENSP00000475523.1:n.*2797_*2799dup
NM_032861.3:c.1519_1521dup	NP_116250.3:p.Met507_Leu508insMet
NR_073096.1:n.1452_1454dup
XM_006715586.1:c.1309_1311dup	XP_006715649.1:p.Met437_Leu438insMet
XM_011536196.1:c.1498_1500dup	XP_011534498.1:p.Met500_Leu501insMet
XM_011536197.1:c.1405_1407dup	XP_011534499.1:p.Met469_Leu470insMet
XM_011536198.1:c.1309_1311dup	XP_011534500.1:p.Met437_Leu438insMet
XM_006715586.3:c.1309_1311dup	XP_006715649.1:p.Met437_Leu438insMet
XM_011536196.3:c.1498_1500dup	XP_011534498.1:p.Met500_Leu501insMet
XM_011536198.3:c.1309_1311dup	XP_011534500.1:p.Met437_Leu438insMet
XM_024446573.1:c.1519_1521dup	XP_024302341.1:p.Met507_Leu508insMet
XR_001743697.2:n.1550_1552dup
XR_942606.2:n.1601_1603dup
NM_032861.4:c.1519_1521dup MANE Select	NP_116250.3:p.Met507_Leu508insMet
NR_073096.2:n.1434_1436dup