Canonical Allele Identifier: CA2539716397

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437770_48437771insGATGTAAGTAAGA , CM000677.2:g.48437770_48437771insGATGTAAGTAAGA	GRCh38
NC_000015.9:g.48729967_48729968insGATGTAAGTAAGA , CM000677.1:g.48729967_48729968insGATGTAAGTAAGA	GRCh37
NC_000015.8:g.46517259_46517260insGATGTAAGTAAGA	NCBI36
NG_008805.2:g.213018_213019insTCTTACTTACATC , LRG_778:g.213018_213019insTCTTACTTACATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6310_6311insTCTTACTTACATC	ENSP00000453958.2:p.Asp2104ValfsTer6
ENST00000674301.2:c.6310_6311insTCTTACTTACATC	ENSP00000501333.2:p.Asp2104ValfsTer6
ENST00000316623.10:c.6310_6311insTCTTACTTACATC MANE Select	ENSP00000325527.5:p.Asp2104ValfsTer6
ENST00000674301.1:c.1309_1310insTCTTACTTACATC	ENSP00000501333.1:p.Asp437ValfsTer6
ENST00000316623.9:c.6310_6311insTCTTACTTACATC	ENSP00000325527.5:p.Asp2104ValfsTer6
ENST00000537463.6:c.*2073_*2074insTCTTACTTACATC	ENSP00000440294.2:n.*2073_*2074insTCTTACTTACATC
ENST00000559133.5:c.1617_1618insTCTTACTTACATC
ENST00000560820.1:n.430_431insTCTTACTTACATC
NM_000138.4:c.6310_6311insTCTTACTTACATC , LRG_778t1:c.6310_6311insTCTTACTTACATC	NP_000129.3:p.Asp2104ValfsTer6
NM_000138.5:c.6310_6311insTCTTACTTACATC MANE Select	NP_000129.3:p.Asp2104ValfsTer6