Canonical Allele Identifier: CA1308186

Gene: F13B

Linked Data

• dbSNP Id: rs764573837
• ExAC: 1:197008554 AAG / A
• gnomAD v2: 1-197008554-AAG-A
• gnomAD v3: 1-197039424-AAG-A
• gnomAD v4: 1-197039424-AAG-A
• MyVariant Identifiers: chr1:g.197008555_197008556del (hg19) ; chr1:g.197039425_197039426del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039430_197039431del , CM000663.2:g.197039430_197039431del	GRCh38
NC_000001.10:g.197008560_197008561del , CM000663.1:g.197008560_197008561del	GRCh37
NC_000001.9:g.195275183_195275184del	NCBI36
NG_012065.1:g.32842_32843del , LRG_550:g.32842_32843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.1953-15_1953-14del MANE Select	ENSP00000356382.2:n.1953-15_1953-14del
ENST00000649282.1:c.708-15_708-14del	ENSP00000497116.1:n.708-15_708-14del
ENST00000367412.1:c.1953-15_1953-14del	ENSP00000356382.1:n.1953-15_1953-14del
NM_001994.2:c.1953-15_1953-14del , LRG_550t1:c.1953-15_1953-14del	NP_001985.2:n.1953-15_1953-14del
XM_011509283.2:c.*873_*874del	XP_011507585.1:n.*873_*874del
XM_011509284.2:c.*873_*874del	XP_011507586.1:n.*873_*874del
XM_011509286.2:c.*873_*874del	XP_011507588.1:n.*873_*874del
NM_001994.3:c.1953-15_1953-14del MANE Select	NP_001985.2:n.1953-15_1953-14del