Canonical Allele Identifier: CA767343631
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1483435950
gnomAD v4: 2-27085115-AC-A
MyVariant Identifiers: chr2:g.27307984del (hg19) chr2:g.27085116del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085116del , CM000664.2:g.27085116del GRCh38
NC_000002.11:g.27307984del , CM000664.1:g.27307984del GRCh37
NC_000002.10:g.27161488del NCBI36
NG_012199.1:g.3374del
NG_046849.1:g.11550del
NG_012199.2:g.3374del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2576-44del MANE Select ENSP00000369677.4:n.2576-44del
ENST00000380320.8:c.2576-44del ENSP00000369677.4:n.2576-44del
ENST00000433140.1:c.568-44del
NM_007046.3:c.2576-44del NP_008977.1:n.2576-44del
XM_006711928.2:c.2575+108del XP_006711991.1:n.2575+108del
NM_007046.4:c.2576-44del MANE Select NP_008977.1:n.2576-44del
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