Canonical Allele Identifier: CA1519940191

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186289215_186289217delinsCAG , CM000666.2:g.186289215_186289217delinsCAG GRCh38
NC_000004.11:g.187210369_187210371delinsCAG , CM000666.1:g.187210369_187210371delinsCAG GRCh37
NC_000004.10:g.187447363_187447365delinsCAG NCBI36
NG_008051.1:g.28252_28254delinsCAG , LRG_583:g.28252_28254delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.*601_*603delinsCAG (F11) MANE Select ENSP00000384957.2:n.*601_*603delinsCAG
NM_000128.3:c.*601_*603delinsCAG , LRG_583t1:c.*601_*603delinsCAG (F11) NP_000119.1:n.*601_*603delinsCAG
NR_033900.1:n.492-215_492-213delinsCTG (F11-AS1)
XM_005262821.2:c.*601_*603delinsCAG (F11) XP_005262878.1:n.*601_*603delinsCAG
XM_005262822.2:c.*601_*603delinsCAG (F11) XP_005262879.1:n.*601_*603delinsCAG
XM_005262823.2:c.*601_*603delinsCAG (F11) XP_005262880.1:n.*601_*603delinsCAG
XM_006714137.1:c.*601_*603delinsCAG (F11) XP_006714200.1:n.*601_*603delinsCAG
XM_005262821.4:c.*601_*603delinsCAG (F11) XP_005262878.1:n.*601_*603delinsCAG
XM_005262822.4:c.*601_*603delinsCAG (F11) XP_005262879.1:n.*601_*603delinsCAG
XM_005262823.4:c.*601_*603delinsCAG (F11) XP_005262880.1:n.*601_*603delinsCAG
XM_006714137.3:c.*601_*603delinsCAG (F11) XP_006714200.1:n.*601_*603delinsCAG
NM_000128.4:c.*601_*603delinsCAG (F11) MANE Select NP_000119.1:n.*601_*603delinsCAG