Canonical Allele Identifier: CA2175463980
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421797_48421802delinsACGCTT , CM000677.2:g.48421797_48421802delinsACGCTT GRCh38
NC_000015.9:g.48713994_48713999delinsACGCTT , CM000677.1:g.48713994_48713999delinsACGCTT GRCh37
NC_000015.8:g.46501286_46501291delinsACGCTT NCBI36
NG_008805.2:g.228987_228992delinsAAGCGT , LRG_778:g.228987_228992delinsAAGCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*379-116_*379-111delinsAAGCGT ENSP00000453958.2:n.*379-116_*379-111delinsAAGCGT
ENST00000674301.2:c.*1084-116_*1084-111delinsAAGCGT ENSP00000501333.2:n.*1084-116_*1084-111delinsAAGCGT
ENST00000682170.1:n.1752-116_1752-111delinsAAGCGT
ENST00000682767.1:n.868-116_868-111delinsAAGCGT
ENST00000316623.10:c.7571-116_7571-111delinsAAGCGT MANE Select ENSP00000325527.5:n.7571-116_7571-111delinsAAGCGT
ENST00000674301.1:c.2737-116_2737-111delinsAAGCGT ENSP00000501333.1:n.2737-116_2737-111delinsAAGCGT
ENST00000316623.9:c.7571-116_7571-111delinsAAGCGT ENSP00000325527.5:n.7571-116_7571-111delinsAAGCGT
ENST00000559133.5:c.2940-116_2940-111delinsAAGCGT
NM_000138.4:c.7571-116_7571-111delinsAAGCGT , LRG_778t1:c.7571-116_7571-111delinsAAGCGT NP_000129.3:n.7571-116_7571-111delinsAAGCGT
NM_000138.5:c.7571-116_7571-111delinsAAGCGT MANE Select NP_000129.3:n.7571-116_7571-111delinsAAGCGT