Canonical Allele Identifier: CA617836980
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v2: 15-48737304-T-TATATATATATATACAC
MyVariant Identifiers: chr15:g.48737304_48737305insATATATATATATACAC (hg19) chr15:g.48445107_48445108insATATATATATATACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445125_48445140dup , CM000677.2:g.48445125_48445140dup GRCh38
NC_000015.9:g.48737322_48737337dup , CM000677.1:g.48737322_48737337dup GRCh37
NC_000015.8:g.46524614_46524629dup NCBI36
NG_008805.2:g.205666_205681dup , LRG_778:g.205666_205681dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+253_5917+268dup ENSP00000453958.2:n.5917+253_5917+268dup
ENST00000674301.2:c.5917+253_5917+268dup ENSP00000501333.2:n.5917+253_5917+268dup
ENST00000684448.1:n.4591+253_4591+268dup
ENST00000316623.10:c.5917+253_5917+268dup MANE Select ENSP00000325527.5:n.5917+253_5917+268dup
ENST00000674301.1:c.916+253_916+268dup ENSP00000501333.1:n.916+253_916+268dup
ENST00000316623.9:c.5917+253_5917+268dup ENSP00000325527.5:n.5917+253_5917+268dup
ENST00000537463.6:c.*1680+253_*1680+268dup ENSP00000440294.2:n.*1680+253_*1680+268dup
ENST00000559133.5:c.1224+253_1224+268dup
ENST00000560820.1:n.37+253_37+268dup
NM_000138.4:c.5917+253_5917+268dup , LRG_778t1:c.5917+253_5917+268dup NP_000129.3:n.5917+253_5917+268dup
NM_000138.5:c.5917+253_5917+268dup MANE Select NP_000129.3:n.5917+253_5917+268dup
Search 100 bp 5'
Search 100 bp 3'