Canonical Allele Identifier: CA571904275

Gene: SERAC1

Linked Data

• dbSNP Id: rs767780913
• gnomAD v2: 6-158535875-CAG-C
• gnomAD v4: 6-158114843-CAG-C
• MyVariant Identifiers: chr6:g.158535876_158535877del (hg19) ; chr6:g.158114844_158114845del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114846_158114847del , CM000668.2:g.158114846_158114847del	GRCh38
NC_000006.11:g.158535878_158535879del , CM000668.1:g.158535878_158535879del	GRCh37
NC_000006.10:g.158455866_158455867del	NCBI36
NG_032889.1:g.58436_58437del

Transcript Alleles

HGVS	Amino-acid change
ENST00000435180.6:c.840_841del	ENSP00000391168.2:n.840_841del
ENST00000607071.6:c.*1348_*1349del	ENSP00000475855.1:n.*1348_*1349del
ENST00000642244.1:c.1538_1539del	ENSP00000493554.1:p.Ser513CysfsTer2
ENST00000642903.1:c.1628_1629del	ENSP00000493559.1:p.Ser543CysfsTer2
ENST00000644972.1:c.1628_1629del	ENSP00000496451.1:p.Ser543CysfsTer2
ENST00000645077.1:c.*1249_*1250del	ENSP00000496113.1:n.*1249_*1250del
ENST00000645172.1:c.*1330_*1331del	ENSP00000495367.1:n.*1330_*1331del
ENST00000646190.1:n.2959_2960del
ENST00000646208.1:c.1364_1365del	ENSP00000493723.1:p.Ser455CysfsTer2
ENST00000646410.1:c.1499_1500del	ENSP00000494205.1:p.Ser500CysfsTer2
ENST00000646562.1:c.*1462_*1463del	ENSP00000496087.1:n.*1462_*1463del
ENST00000647468.2:c.1628_1629del MANE Select	ENSP00000496731.1:p.Ser543CysfsTer2
ENST00000648111.1:c.*1316_*1317del	ENSP00000497275.1:n.*1316_*1317del
ENST00000367101.5:c.*76_*77del	ENSP00000356068.1:n.*76_*77del
ENST00000367104.7:c.1628_1629del	ENSP00000356071.3:p.Ser543CysfsTer2
ENST00000435180.5:c.353_354del	ENSP00000391168.1:p.Ser118CysfsTer2
ENST00000606965.5:c.*189_*190del	ENSP00000475808.1:n.*189_*190del
ENST00000607071.5:c.*1562_*1563del	ENSP00000475855.1:n.*1562_*1563del
ENST00000607742.5:c.*2906_*2907del	ENSP00000475523.1:n.*2906_*2907del
NM_032861.3:c.1628_1629del	NP_116250.3:p.Ser543CysfsTer2
NR_073096.1:n.1561_1562del
XM_006715586.1:c.1418_1419del	XP_006715649.1:p.Ser473CysfsTer2
XM_011536196.1:c.1607_1608del	XP_011534498.1:p.Ser536CysfsTer2
XM_011536197.1:c.1514_1515del	XP_011534499.1:p.Ser505CysfsTer2
XM_011536198.1:c.1418_1419del	XP_011534500.1:p.Ser473CysfsTer2
XM_006715586.3:c.1418_1419del	XP_006715649.1:p.Ser473CysfsTer2
XM_011536196.3:c.1607_1608del	XP_011534498.1:p.Ser536CysfsTer2
XM_011536198.3:c.1418_1419del	XP_011534500.1:p.Ser473CysfsTer2
XM_024446573.1:c.1628_1629del	XP_024302341.1:p.Ser543CysfsTer2
XR_001743697.2:n.1659_1660del
XR_942606.2:n.1710_1711del
NM_032861.4:c.1628_1629del MANE Select	NP_116250.3:p.Ser543CysfsTer2
NR_073096.2:n.1543_1544del