Canonical Allele Identifier: CA2623810601

Gene: F7

Linked Data

• gnomAD v4: 13-113119511-GCACACACAGATGGTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119516_113119531del , CM000675.2:g.113119516_113119531del	GRCh38
NC_000013.10:g.113773830_113773845del , CM000675.1:g.113773830_113773845del	GRCh37
NC_000013.9:g.112821831_112821846del	NCBI36
NG_009258.1:g.1718_1733del , LRG_548:g.1718_1733del
NG_009262.1:g.18726_18741del , LRG_554:g.18726_18741del

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.*508_*523del MANE Select	ENSP00000329546.4:n.*508_*523del
ENST00000346342.7:c.*508_*523del	ENSP00000329546.3:n.*508_*523del
ENST00000375581.3:c.*508_*523del	ENSP00000364731.3:n.*508_*523del
ENST00000541084.5:c.*508_*523del	ENSP00000442051.2:n.*508_*523del
NM_000131.4:c.*508_*523del , LRG_554t1:c.*508_*523del	NP_000122.1:n.*508_*523del
NM_001267554.1:c.*508_*523del	NP_001254483.1:n.*508_*523del
NM_019616.3:c.*508_*523del , LRG_554t2:c.*508_*523del	NP_062562.1:n.*508_*523del
NR_051961.1:n.1930_1945del
XM_006719963.2:c.*508_*523del	XP_006720026.1:n.*508_*523del
XM_011537474.1:c.*508_*523del	XP_011535776.1:n.*508_*523del
XM_011537475.1:c.*508_*523del	XP_011535777.1:n.*508_*523del
XM_011537476.1:c.*508_*523del	XP_011535778.1:n.*508_*523del
XM_011537477.1:c.*508_*523del	XP_011535779.1:n.*508_*523del
XM_006719963.3:c.*508_*523del	XP_006720026.2:n.*508_*523del
XM_011537474.2:c.*508_*523del	XP_011535776.2:n.*508_*523del
XM_011537475.2:c.*508_*523del	XP_011535777.2:n.*508_*523del
XM_011537476.2:c.*508_*523del	XP_011535778.1:n.*508_*523del
NM_019616.4:c.*508_*523del MANE Select	NP_062562.1:n.*508_*523del
NR_051961.2:n.1927_1942del
NM_001267554.2:c.*508_*523del	NP_001254483.1:n.*508_*523del