Canonical Allele Identifier: CA2175496731

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434542_48434555delinsTGTTCCCAGGATCA , CM000677.2:g.48434542_48434555delinsTGTTCCCAGGATCA	GRCh38
NC_000015.9:g.48726739_48726752delinsTGTTCCCAGGATCA , CM000677.1:g.48726739_48726752delinsTGTTCCCAGGATCA	GRCh37
NC_000015.8:g.46514031_46514044delinsTGTTCCCAGGATCA	NCBI36
NG_008805.2:g.216234_216247delinsTGATCCTGGGAACA , LRG_778:g.216234_216247delinsTGATCCTGGGAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+39_6616+52delinsTGATCCTGGGAACA	ENSP00000453958.2:n.6616+39_6616+52delinsTGATCCTGGGAACA
ENST00000674301.2:c.6616+39_6616+52delinsTGATCCTGGGAACA	ENSP00000501333.2:n.6616+39_6616+52delinsTGATCCTGGGAACA
ENST00000682170.1:n.225+39_225+52delinsTGATCCTGGGAACA
ENST00000316623.10:c.6616+39_6616+52delinsTGATCCTGGGAACA MANE Select	ENSP00000325527.5:n.6616+39_6616+52delinsTGATCCTGGGAACA
ENST00000674301.1:c.1615+39_1615+52delinsTGATCCTGGGAACA	ENSP00000501333.1:n.1615+39_1615+52delinsTGATCCTGGGAACA
ENST00000316623.9:c.6616+39_6616+52delinsTGATCCTGGGAACA	ENSP00000325527.5:n.6616+39_6616+52delinsTGATCCTGGGAACA
ENST00000537463.6:c.*2379+39_*2379+52delinsTGATCCTGGGAACA	ENSP00000440294.2:n.*2379+39_*2379+52delinsTGATCCTGGGAACA
ENST00000559133.5:c.1923+39_1923+52delinsTGATCCTGGGAACA
NM_000138.4:c.6616+39_6616+52delinsTGATCCTGGGAACA , LRG_778t1:c.6616+39_6616+52delinsTGATCCTGGGAACA	NP_000129.3:n.6616+39_6616+52delinsTGATCCTGGGAACA
NM_000138.5:c.6616+39_6616+52delinsTGATCCTGGGAACA MANE Select	NP_000129.3:n.6616+39_6616+52delinsTGATCCTGGGAACA