Canonical Allele Identifier: CA531422476
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1179147396
gnomAD v2: 2-27308122-CAG-C
gnomAD v4: 2-27085254-CAG-C
MyVariant Identifiers: chr2:g.27308123_27308124del (hg19) chr2:g.27085255_27085256del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085257_27085258del , CM000664.2:g.27085257_27085258del GRCh38
NC_000002.11:g.27308125_27308126del , CM000664.1:g.27308125_27308126del GRCh37
NC_000002.10:g.27161629_27161630del NCBI36
NG_012199.1:g.3515_3516del
NG_046849.1:g.11691_11692del
NG_012199.2:g.3515_3516del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2673_2674del MANE Select ENSP00000369677.4:p.Arg891SerfsTer5
ENST00000380320.8:c.2673_2674del ENSP00000369677.4:p.Arg891SerfsTer5
ENST00000433140.1:c.665_666del
NM_007046.3:c.2673_2674del NP_008977.1:p.Arg891SerfsTer5
XM_006711928.2:c.2575+249_2575+250del XP_006711991.1:n.2575+249_2575+250del
NM_007046.4:c.2673_2674del MANE Select NP_008977.1:p.Arg891SerfsTer5
Search 100 bp 5'
Search 100 bp 3'