Canonical Allele Identifier: CA3164017

Linked Data

dbSNP Id: rs746798711

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286454_186286483dup , CM000666.2:g.186286454_186286483dup GRCh38
NC_000004.11:g.187207608_187207637dup , CM000666.1:g.187207608_187207637dup GRCh37
NC_000004.10:g.187444602_187444631dup NCBI36
NG_008051.1:g.25491_25520dup , LRG_583:g.25491_25520dup

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1520_1549dup (F11) MANE Select ENSP00000384957.2:p.Val516_Thr517insArgAsnValIleTyrThrAspCysT...
ENST00000264691.4:c.176+641_176+670dup (F11)
ENST00000264692.8:c.1358_1387dup (F11) ENSP00000264692.5:p.Val462_Thr463insArgAsnValIleTyrThrAspCysT...
ENST00000403665.6:c.1520_1549dup (F11) ENSP00000384957.2:p.Val516_Thr517insArgAsnValIleTyrThrAspCysT...
NM_000128.3:c.1520_1549dup , LRG_583t1:c.1520_1549dup (F11) NP_000119.1:p.Val516_Thr517insArgAsnValIleTyrThrAspCysTrpVal
NR_033900.1:n.1067-216_1067-187dup (F11-AS1)
XM_005262821.2:c.1523_1552dup (F11) XP_005262878.1:p.Val517_Thr518insArgAsnValIleTyrThrAspCysTrpV...
XM_005262822.2:c.1483+641_1483+670dup (F11) XP_005262879.1:n.1483+641_1483+670dup
XM_005262823.2:c.1253_1282dup (F11) XP_005262880.1:p.Val427_Thr428insArgAsnValIleTyrThrAspCysTrpV...
XM_005262824.1:c.1484-92_1484-63dup (F11) XP_005262881.1:n.1484-92_1484-63dup
XM_006714137.1:c.1475_1504dup (F11) XP_006714200.1:p.Val501_Thr502insArgAsnValIleTyrThrAspCysTrpV...
XR_938706.1:n.1928_1957dup (F11)
XR_938707.1:n.1888+641_1888+670dup (F11)
XM_005262821.4:c.1523_1552dup (F11) XP_005262878.1:p.Val517_Thr518insArgAsnValIleTyrThrAspCysTrpV...
XM_005262822.4:c.1483+641_1483+670dup (F11) XP_005262879.1:n.1483+641_1483+670dup
XM_005262823.4:c.1253_1282dup (F11) XP_005262880.1:p.Val427_Thr428insArgAsnValIleTyrThrAspCysTrpV...
XM_006714137.3:c.1475_1504dup (F11) XP_006714200.1:p.Val501_Thr502insArgAsnValIleTyrThrAspCysTrpV...
XR_001741172.2:n.1994_2023dup (F11)
NM_000128.4:c.1520_1549dup (F11) MANE Select NP_000119.1:p.Val516_Thr517insArgAsnValIleTyrThrAspCysTrpVal