Canonical Allele Identifier: CA645530558
Gene: EMILIN1 HGNC NCBI

Linked Data

COSMIC: COSM4517023
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085246_27085247delinsTT , CM000664.2:g.27085246_27085247delinsTT GRCh38
NC_000002.11:g.27308114_27308115delinsTT , CM000664.1:g.27308114_27308115delinsTT GRCh37
NC_000002.10:g.27161618_27161619delinsTT NCBI36
NG_012199.1:g.3504_3505delinsTT
NG_046849.1:g.11680_11681delinsTT
NG_012199.2:g.3504_3505delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2662_2663delinsTT MANE Select ENSP00000369677.4:p.Pro888Phe
ENST00000380320.8:c.2662_2663delinsTT ENSP00000369677.4:p.Pro888Phe
ENST00000433140.1:c.654_655delinsTT
NM_007046.3:c.2662_2663delinsTT NP_008977.1:p.Pro888Phe
XM_006711928.2:c.2575+238_2575+239delinsTT XP_006711991.1:n.2575+238_2575+239delinsTT
NM_007046.4:c.2662_2663delinsTT MANE Select NP_008977.1:p.Pro888Phe
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