Canonical Allele Identifier: CA1308181

Gene: F13B

Linked Data

• dbSNP Id: rs756187354
• ExAC: 1:197008516 TTAAGGG / T
• gnomAD v2: 1-197008516-TTAAGGG-T
• gnomAD v4: 1-197039386-TTAAGGG-T
• MyVariant Identifiers: chr1:g.197008517_197008522del (hg19) ; chr1:g.197039387_197039392del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039388_197039393del , CM000663.2:g.197039388_197039393del	GRCh38
NC_000001.10:g.197008518_197008523del , CM000663.1:g.197008518_197008523del	GRCh37
NC_000001.9:g.195275141_195275146del	NCBI36
NG_012065.1:g.32876_32881del , LRG_550:g.32876_32881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.1972_1977del MANE Select	ENSP00000356382.2:p.Pro658_Leu659del
ENST00000649282.1:c.727_732del	ENSP00000497116.1:p.Pro243_Leu244del
ENST00000367412.1:c.1972_1977del	ENSP00000356382.1:p.Pro658_Leu659del
NM_001994.2:c.1972_1977del , LRG_550t1:c.1972_1977del	NP_001985.2:p.Pro658_Leu659del
XM_011509283.2:c.*907_*912del	XP_011507585.1:n.*907_*912del
XM_011509284.2:c.*907_*912del	XP_011507586.1:n.*907_*912del
XM_011509286.2:c.*907_*912del	XP_011507588.1:n.*907_*912del
NM_001994.3:c.1972_1977del MANE Select	NP_001985.2:p.Pro658_Leu659del