Canonical Allele Identifier: CA2658283701
Gene: EMILIN1 HGNC NCBI

Linked Data

gnomAD v4: 2-27085270-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085271dup , CM000664.2:g.27085271dup GRCh38
NC_000002.11:g.27308139dup , CM000664.1:g.27308139dup GRCh37
NC_000002.10:g.27161643dup NCBI36
NG_012199.1:g.3529dup
NG_046849.1:g.11705dup
NG_012199.2:g.3529dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2687dup MANE Select ENSP00000369677.4:p.Asp896GlufsTer6
ENST00000380320.8:c.2687dup ENSP00000369677.4:p.Asp896GlufsTer6
ENST00000433140.1:c.679dup
NM_007046.3:c.2687dup NP_008977.1:p.Asp896GlufsTer6
XM_006711928.2:c.2575+263dup XP_006711991.1:n.2575+263dup
NM_007046.4:c.2687dup MANE Select NP_008977.1:p.Asp896GlufsTer6
Search 100 bp 5'
Search 100 bp 3'