Canonical Allele Identifier: CA4071030

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 1329462
• ClinVar RCV Id: RCV001799538
• dbSNP Id: rs759351997
• ExAC: 6:158535995 CAAG / C
• gnomAD v2: 6-158535995-CAAG-C
• gnomAD v4: 6-158114963-CAAG-C
• MyVariant Identifiers: chr6:g.158535996_158535998del (hg19) ; chr6:g.158114964_158114966del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114968_158114970del , CM000668.2:g.158114968_158114970del	GRCh38
NC_000006.11:g.158536000_158536002del , CM000668.1:g.158536000_158536002del	GRCh37
NC_000006.10:g.158455988_158455990del	NCBI36
NG_032889.1:g.58315_58317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.719_721del	ENSP00000391168.2:n.719_721del
ENST00000607071.6:c.*1227_*1229del	ENSP00000475855.1:n.*1227_*1229del
ENST00000642244.1:c.1417_1419del	ENSP00000493554.1:p.Leu473del
ENST00000642903.1:c.1507_1509del	ENSP00000493559.1:p.Leu503del
ENST00000644972.1:c.1507_1509del	ENSP00000496451.1:p.Leu503del
ENST00000645077.1:c.*1128_*1130del	ENSP00000496113.1:n.*1128_*1130del
ENST00000645172.1:c.*1209_*1211del	ENSP00000495367.1:n.*1209_*1211del
ENST00000646190.1:n.2838_2840del
ENST00000646208.1:c.1243_1245del	ENSP00000493723.1:p.Leu415del
ENST00000646410.1:c.1378_1380del	ENSP00000494205.1:p.Leu460del
ENST00000646562.1:c.*1341_*1343del	ENSP00000496087.1:n.*1341_*1343del
ENST00000647468.2:c.1507_1509del MANE Select	ENSP00000496731.1:p.Leu503del
ENST00000648111.1:c.*1195_*1197del	ENSP00000497275.1:n.*1195_*1197del
ENST00000367101.5:c.1551_1553del	ENSP00000356068.1:p.Phe517del
ENST00000367104.7:c.1507_1509del	ENSP00000356071.3:p.Leu503del
ENST00000435180.5:c.232_234del	ENSP00000391168.1:p.Leu78del
ENST00000606965.5:c.*68_*70del	ENSP00000475808.1:n.*68_*70del
ENST00000607071.5:c.*1441_*1443del	ENSP00000475855.1:n.*1441_*1443del
ENST00000607742.5:c.*2785_*2787del	ENSP00000475523.1:n.*2785_*2787del
NM_032861.3:c.1507_1509del	NP_116250.3:p.Leu503del
NR_073096.1:n.1440_1442del
XM_006715586.1:c.1297_1299del	XP_006715649.1:p.Leu433del
XM_011536196.1:c.1486_1488del	XP_011534498.1:p.Leu496del
XM_011536197.1:c.1393_1395del	XP_011534499.1:p.Leu465del
XM_011536198.1:c.1297_1299del	XP_011534500.1:p.Leu433del
XM_006715586.3:c.1297_1299del	XP_006715649.1:p.Leu433del
XM_011536196.3:c.1486_1488del	XP_011534498.1:p.Leu496del
XM_011536198.3:c.1297_1299del	XP_011534500.1:p.Leu433del
XM_024446573.1:c.1507_1509del	XP_024302341.1:p.Leu503del
XR_001743697.2:n.1538_1540del
XR_942606.2:n.1589_1591del
NM_032861.4:c.1507_1509del MANE Select	NP_116250.3:p.Leu503del
NR_073096.2:n.1422_1424del