Canonical Allele Identifier: CA2649657689
Gene: F13B HGNC NCBI

Linked Data

gnomAD v4: 1-197039157-CAT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039159_197039160del , CM000663.2:g.197039159_197039160del GRCh38
NC_000001.10:g.197008289_197008290del , CM000663.1:g.197008289_197008290del GRCh37
NC_000001.9:g.195274912_195274913del NCBI36
NG_012065.1:g.33109_33110del , LRG_550:g.33109_33110del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.*219_*220del MANE Select ENSP00000356382.2:n.*219_*220del
ENST00000649282.1:c.960_961del ENSP00000497116.1:n.960_961del
XM_011509283.2:c.*1140_*1141del XP_011507585.1:n.*1140_*1141del
XM_011509284.2:c.*1140_*1141del XP_011507586.1:n.*1140_*1141del
XM_011509286.2:c.*1140_*1141del XP_011507588.1:n.*1140_*1141del
NM_001994.3:c.*219_*220del MANE Select NP_001985.2:n.*219_*220del
Search 100 bp 5'
Search 100 bp 3'