Canonical Allele Identifier: CA150914303

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 1191845
• ClinVar RCV Id: RCV001553076
• dbSNP Id: rs141344053
• gnomAD v2: 6-158535594-GATA-G
• gnomAD v3: 6-158114562-GATA-G
• gnomAD v4: 6-158114562-GATA-G
• MyVariant Identifiers: chr6:g.158535595_158535597del (hg19) ; chr6:g.158114563_158114565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114566_158114568del , CM000668.2:g.158114566_158114568del	GRCh38
NC_000006.11:g.158535598_158535600del , CM000668.1:g.158535598_158535600del	GRCh37
NC_000006.10:g.158455586_158455588del	NCBI36
NG_032889.1:g.58716_58718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1404+224_*1404+226del	ENSP00000475855.1:n.*1404+224_*1404+226del
ENST00000642244.1:c.1594+224_1594+226del	ENSP00000493554.1:n.1594+224_1594+226del
ENST00000644972.1:c.1684+224_1684+226del	ENSP00000496451.1:n.1684+224_1684+226del
ENST00000645077.1:c.*1305+224_*1305+226del	ENSP00000496113.1:n.*1305+224_*1305+226del
ENST00000645172.1:c.*1386+224_*1386+226del	ENSP00000495367.1:n.*1386+224_*1386+226del
ENST00000646190.1:n.3015+224_3015+226del
ENST00000646208.1:c.1420+224_1420+226del	ENSP00000493723.1:n.1420+224_1420+226del
ENST00000646410.1:c.1555+224_1555+226del	ENSP00000494205.1:n.1555+224_1555+226del
ENST00000646562.1:c.*1742_*1744del	ENSP00000496087.1:n.*1742_*1744del
ENST00000647468.2:c.1684+224_1684+226del MANE Select	ENSP00000496731.1:n.1684+224_1684+226del
ENST00000648111.1:c.*1372+224_*1372+226del	ENSP00000497275.1:n.*1372+224_*1372+226del
ENST00000367104.7:c.1684+224_1684+226del	ENSP00000356071.3:n.1684+224_1684+226del
ENST00000606965.5:c.*469_*471del	ENSP00000475808.1:n.*469_*471del
ENST00000607071.5:c.*1618+224_*1618+226del	ENSP00000475855.1:n.*1618+224_*1618+226del
ENST00000607742.5:c.*2962+224_*2962+226del	ENSP00000475523.1:n.*2962+224_*2962+226del
NM_032861.3:c.1684+224_1684+226del	NP_116250.3:n.1684+224_1684+226del
NR_073096.1:n.1841_1843del
XM_006715586.1:c.1474+224_1474+226del	XP_006715649.1:n.1474+224_1474+226del
XM_011536196.1:c.1663+224_1663+226del	XP_011534498.1:n.1663+224_1663+226del
XM_011536197.1:c.1570+224_1570+226del	XP_011534499.1:n.1570+224_1570+226del
XM_011536198.1:c.1474+224_1474+226del	XP_011534500.1:n.1474+224_1474+226del
XM_006715586.3:c.1474+224_1474+226del	XP_006715649.1:n.1474+224_1474+226del
XM_011536196.3:c.1663+224_1663+226del	XP_011534498.1:n.1663+224_1663+226del
XM_011536198.3:c.1474+224_1474+226del	XP_011534500.1:n.1474+224_1474+226del
XM_024446573.1:c.1684+224_1684+226del	XP_024302341.1:n.1684+224_1684+226del
XR_001743697.2:n.1715+224_1715+226del
XR_942606.2:n.1766+224_1766+226del
NM_032861.4:c.1684+224_1684+226del MANE Select	NP_116250.3:n.1684+224_1684+226del
NR_073096.2:n.1823_1825del