Canonical Allele Identifier: CA2658283396
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs2148320685
gnomAD v4: 2-27085054-TGGA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085058_27085060del , CM000664.2:g.27085058_27085060del GRCh38
NC_000002.11:g.27307926_27307928del , CM000664.1:g.27307926_27307928del GRCh37
NC_000002.10:g.27161430_27161432del NCBI36
NG_012199.1:g.3316_3318del
NG_046849.1:g.11492_11494del
NG_012199.2:g.3316_3318del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2575+50_2575+52del MANE Select ENSP00000369677.4:n.2575+50_2575+52del
ENST00000380320.8:c.2575+50_2575+52del ENSP00000369677.4:n.2575+50_2575+52del
ENST00000433140.1:c.567+50_567+52del
NM_007046.3:c.2575+50_2575+52del NP_008977.1:n.2575+50_2575+52del
XM_006711928.2:c.2575+50_2575+52del XP_006711991.1:n.2575+50_2575+52del
NM_007046.4:c.2575+50_2575+52del MANE Select NP_008977.1:n.2575+50_2575+52del
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