Canonical Allele Identifier: CA1519939634

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288121_186288130delinsCCAGGATGGT , CM000666.2:g.186288121_186288130delinsCCAGGATGGT GRCh38
NC_000004.11:g.187209275_187209284delinsCCAGGATGGT , CM000666.1:g.187209275_187209284delinsCCAGGATGGT GRCh37
NC_000004.10:g.187446269_187446278delinsCCAGGATGGT NCBI36
NG_008051.1:g.27158_27167delinsCCAGGATGGT , LRG_583:g.27158_27167delinsCCAGGATGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1716+298_1716+307delinsCCAGGATGGT (F11) MANE Select ENSP00000384957.2:n.1716+298_1716+307delinsCCAGGATGGT
ENST00000264691.4:c.316+298_316+307delinsCCAGGATGGT (F11)
ENST00000264692.8:c.1554+298_1554+307delinsCCAGGATGGT (F11) ENSP00000264692.5:n.1554+298_1554+307delinsCCAGGATGGT
ENST00000403665.6:c.1716+298_1716+307delinsCCAGGATGGT (F11) ENSP00000384957.2:n.1716+298_1716+307delinsCCAGGATGGT
ENST00000503841.1:n.235+298_235+307delinsCCAGGATGGT (F11)
NM_000128.3:c.1716+298_1716+307delinsCCAGGATGGT , LRG_583t1:c.1716+298_1716+307delinsCCAGGATGGT (F11) NP_000119.1:n.1716+298_1716+307delinsCCAGGATGGT
NR_033900.1:n.1066+298_1066+307delinsACCATCCTGG (F11-AS1)
XM_005262821.2:c.1719+298_1719+307delinsCCAGGATGGT (F11) XP_005262878.1:n.1719+298_1719+307delinsCCAGGATGGT
XM_005262822.2:c.1623+298_1623+307delinsCCAGGATGGT (F11) XP_005262879.1:n.1623+298_1623+307delinsCCAGGATGGT
XM_005262823.2:c.1449+298_1449+307delinsCCAGGATGGT (F11) XP_005262880.1:n.1449+298_1449+307delinsCCAGGATGGT
XM_006714137.1:c.1671+298_1671+307delinsCCAGGATGGT (F11) XP_006714200.1:n.1671+298_1671+307delinsCCAGGATGGT
XM_005262821.4:c.1719+298_1719+307delinsCCAGGATGGT (F11) XP_005262878.1:n.1719+298_1719+307delinsCCAGGATGGT
XM_005262822.4:c.1623+298_1623+307delinsCCAGGATGGT (F11) XP_005262879.1:n.1623+298_1623+307delinsCCAGGATGGT
XM_005262823.4:c.1449+298_1449+307delinsCCAGGATGGT (F11) XP_005262880.1:n.1449+298_1449+307delinsCCAGGATGGT
XM_006714137.3:c.1671+298_1671+307delinsCCAGGATGGT (F11) XP_006714200.1:n.1671+298_1671+307delinsCCAGGATGGT
NM_000128.4:c.1716+298_1716+307delinsCCAGGATGGT (F11) MANE Select NP_000119.1:n.1716+298_1716+307delinsCCAGGATGGT