Canonical Allele Identifier: CA2657290890

Gene: FBLN1

Linked Data

• gnomAD v4: 22-45566017-GGAGTAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45566019_45566024del , CM000684.2:g.45566019_45566024del	GRCh38
NC_000022.10:g.45961899_45961904del , CM000684.1:g.45961899_45961904del	GRCh37
NC_000022.9:g.44340563_44340568del	NCBI36
NG_023308.2:g.68181_68186del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327858.11:c.1698-8492_1698-8487del MANE Select	ENSP00000331544.6:n.1698-8492_1698-8487del
ENST00000327858.10:c.1698-8492_1698-8487del	ENSP00000331544.6:n.1698-8492_1698-8487del
NM_006486.2:c.1698-8492_1698-8487del	NP_006477.2:n.1698-8492_1698-8487del
NM_006486.3:c.1698-8492_1698-8487del MANE Select	NP_006477.3:n.1698-8492_1698-8487del