Canonical Allele Identifier: CA256462097

Gene: F7

Linked Data

• dbSNP Id: rs878911655
• gnomAD v3: 13-113119115-AGGGAGGGAGAGGTG-A
• gnomAD v4: 13-113119115-AGGGAGGGAGAGGTG-A
• MyVariant Identifiers: chr13:g.113773430_113773443del (hg19) ; chr13:g.113119116_113119129del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119126_113119139del , CM000675.2:g.113119126_113119139del	GRCh38
NC_000013.10:g.113773440_113773453del , CM000675.1:g.113773440_113773453del	GRCh37
NC_000013.9:g.112821441_112821454del	NCBI36
NG_009258.1:g.1328_1341del , LRG_548:g.1328_1341del
NG_009262.1:g.18336_18349del , LRG_554:g.18336_18349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.*118_*131del MANE Select	ENSP00000329546.4:n.*118_*131del
ENST00000346342.7:c.*118_*131del	ENSP00000329546.3:n.*118_*131del
ENST00000375581.3:c.*118_*131del	ENSP00000364731.3:n.*118_*131del
ENST00000541084.5:c.*118_*131del	ENSP00000442051.2:n.*118_*131del
NM_000131.4:c.*118_*131del , LRG_554t1:c.*118_*131del	NP_000122.1:n.*118_*131del
NM_001267554.1:c.*118_*131del	NP_001254483.1:n.*118_*131del
NM_019616.3:c.*118_*131del , LRG_554t2:c.*118_*131del	NP_062562.1:n.*118_*131del
NR_051961.1:n.1540_1553del
XM_006719963.2:c.*118_*131del	XP_006720026.1:n.*118_*131del
XM_011537474.1:c.*118_*131del	XP_011535776.1:n.*118_*131del
XM_011537475.1:c.*118_*131del	XP_011535777.1:n.*118_*131del
XM_011537476.1:c.*118_*131del	XP_011535778.1:n.*118_*131del
XM_011537477.1:c.*118_*131del	XP_011535779.1:n.*118_*131del
XM_006719963.3:c.*118_*131del	XP_006720026.2:n.*118_*131del
XM_011537474.2:c.*118_*131del	XP_011535776.2:n.*118_*131del
XM_011537475.2:c.*118_*131del	XP_011535777.2:n.*118_*131del
XM_011537476.2:c.*118_*131del	XP_011535778.1:n.*118_*131del
NM_019616.4:c.*118_*131del MANE Select	NP_062562.1:n.*118_*131del
NR_051961.2:n.1537_1550del
NM_001267554.2:c.*118_*131del	NP_001254483.1:n.*118_*131del