Canonical Allele Identifier: CA2175513311
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445173_48445185delinsCATATATATATGT , CM000677.2:g.48445173_48445185delinsCATATATATATGT GRCh38
NC_000015.9:g.48737370_48737382delinsCATATATATATGT , CM000677.1:g.48737370_48737382delinsCATATATATATGT GRCh37
NC_000015.8:g.46524662_46524674delinsCATATATATATGT NCBI36
NG_008805.2:g.205604_205616delinsACATATATATATG , LRG_778:g.205604_205616delinsACATATATATATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+191_5917+203delinsACATATATATATG ENSP00000453958.2:n.5917+191_5917+203delinsACATATATATATG
ENST00000674301.2:c.5917+191_5917+203delinsACATATATATATG ENSP00000501333.2:n.5917+191_5917+203delinsACATATATATATG
ENST00000684448.1:n.4591+191_4591+203delinsACATATATATATG
ENST00000316623.10:c.5917+191_5917+203delinsACATATATATATG MANE Select ENSP00000325527.5:n.5917+191_5917+203delinsACATATATATATG
ENST00000674301.1:c.916+191_916+203delinsACATATATATATG ENSP00000501333.1:n.916+191_916+203delinsACATATATATATG
ENST00000316623.9:c.5917+191_5917+203delinsACATATATATATG ENSP00000325527.5:n.5917+191_5917+203delinsACATATATATATG
ENST00000537463.6:c.*1680+191_*1680+203delinsACATATATATATG ENSP00000440294.2:n.*1680+191_*1680+203delinsACATATATATATG
ENST00000559133.5:c.1224+191_1224+203delinsACATATATATATG
ENST00000560820.1:n.37+191_37+203delinsACATATATATATG
NM_000138.4:c.5917+191_5917+203delinsACATATATATATG , LRG_778t1:c.5917+191_5917+203delinsACATATATATATG NP_000129.3:n.5917+191_5917+203delinsACATATATATATG
NM_000138.5:c.5917+191_5917+203delinsACATATATATATG MANE Select NP_000129.3:n.5917+191_5917+203delinsACATATATATATG
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