Canonical Allele Identifier: CA1096370427

Gene: SERAC1

Linked Data

• dbSNP Id: rs1784246124
• gnomAD v3: 6-158114884-T-TA
• gnomAD v4: 6-158114884-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114890dup , CM000668.2:g.158114890dup	GRCh38
NC_000006.11:g.158535922dup , CM000668.1:g.158535922dup	GRCh37
NC_000006.10:g.158455910dup	NCBI36
NG_032889.1:g.58396dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000435180.6:c.800dup	ENSP00000391168.2:n.800dup
ENST00000607071.6:c.*1308dup	ENSP00000475855.1:n.*1308dup
ENST00000642244.1:c.1498dup	ENSP00000493554.1:p.Tyr500LeufsTer2
ENST00000642903.1:c.1588dup	ENSP00000493559.1:p.Tyr530LeufsTer2
ENST00000644972.1:c.1588dup	ENSP00000496451.1:p.Tyr530LeufsTer2
ENST00000645077.1:c.*1209dup	ENSP00000496113.1:n.*1209dup
ENST00000645172.1:c.*1290dup	ENSP00000495367.1:n.*1290dup
ENST00000646190.1:n.2919dup
ENST00000646208.1:c.1324dup	ENSP00000493723.1:p.Tyr442LeufsTer2
ENST00000646410.1:c.1459dup	ENSP00000494205.1:p.Tyr487LeufsTer2
ENST00000646562.1:c.*1422dup	ENSP00000496087.1:n.*1422dup
ENST00000647468.2:c.1588dup MANE Select	ENSP00000496731.1:p.Tyr530LeufsTer2
ENST00000648111.1:c.*1276dup	ENSP00000497275.1:n.*1276dup
ENST00000367101.5:c.*36dup	ENSP00000356068.1:n.*36dup
ENST00000367104.7:c.1588dup	ENSP00000356071.3:p.Tyr530LeufsTer2
ENST00000435180.5:c.313dup	ENSP00000391168.1:p.Tyr105LeufsTer2
ENST00000606965.5:c.*149dup	ENSP00000475808.1:n.*149dup
ENST00000607071.5:c.*1522dup	ENSP00000475855.1:n.*1522dup
ENST00000607742.5:c.*2866dup	ENSP00000475523.1:n.*2866dup
NM_032861.3:c.1588dup	NP_116250.3:p.Tyr530LeufsTer2
NR_073096.1:n.1521dup
XM_006715586.1:c.1378dup	XP_006715649.1:p.Tyr460LeufsTer2
XM_011536196.1:c.1567dup	XP_011534498.1:p.Tyr523LeufsTer2
XM_011536197.1:c.1474dup	XP_011534499.1:p.Tyr492LeufsTer2
XM_011536198.1:c.1378dup	XP_011534500.1:p.Tyr460LeufsTer2
XM_006715586.3:c.1378dup	XP_006715649.1:p.Tyr460LeufsTer2
XM_011536196.3:c.1567dup	XP_011534498.1:p.Tyr523LeufsTer2
XM_011536198.3:c.1378dup	XP_011534500.1:p.Tyr460LeufsTer2
XM_024446573.1:c.1588dup	XP_024302341.1:p.Tyr530LeufsTer2
XR_001743697.2:n.1619dup
XR_942606.2:n.1670dup
NM_032861.4:c.1588dup MANE Select	NP_116250.3:p.Tyr530LeufsTer2
NR_073096.2:n.1503dup