Canonical Allele Identifier: CA1519939875

Linked Data

ClinVar Variation Id: 2682877
ClinVar RCV Id: RCV003481744
dbSNP Id: rs1741391592

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288602_186288603del , CM000666.2:g.186288602_186288603del GRCh38
NC_000004.11:g.187209756_187209757del , CM000666.1:g.187209756_187209757del GRCh37
NC_000004.10:g.187446750_187446751del NCBI36
NG_008051.1:g.27639_27640del , LRG_583:g.27639_27640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1866_1867del (F11) MANE Select ENSP00000384957.2:p.Gln623SerfsTer?
ENST00000264691.4:c.466_467del (F11)
ENST00000264692.8:c.1704_1705del (F11) ENSP00000264692.5:p.Gln569SerfsTer?
ENST00000403665.6:c.1866_1867del (F11) ENSP00000384957.2:p.Gln623SerfsTer?
ENST00000503841.1:n.385_386del (F11)
NM_000128.3:c.1866_1867del , LRG_583t1:c.1866_1867del (F11) NP_000119.1:p.Gln623SerfsTer?
NR_033900.1:n.892_893del (F11-AS1)
XM_005262821.2:c.1869_1870del (F11) XP_005262878.1:p.Gln624SerfsTer?
XM_005262822.2:c.1773_1774del (F11) XP_005262879.1:p.Gln592SerfsTer?
XM_005262823.2:c.1599_1600del (F11) XP_005262880.1:p.Gln534SerfsTer?
XM_006714137.1:c.1821_1822del (F11) XP_006714200.1:p.Gln608SerfsTer?
XM_005262821.4:c.1869_1870del (F11) XP_005262878.1:p.Gln624SerfsTer?
XM_005262822.4:c.1773_1774del (F11) XP_005262879.1:p.Gln592SerfsTer?
XM_005262823.4:c.1599_1600del (F11) XP_005262880.1:p.Gln534SerfsTer?
XM_006714137.3:c.1821_1822del (F11) XP_006714200.1:p.Gln608SerfsTer?
NM_000128.4:c.1866_1867del (F11) MANE Select NP_000119.1:p.Gln623SerfsTer?