Canonical Allele Identifier: CA1028653100

Gene: EMILIN1

Linked Data

• dbSNP Id: rs1669568694
• gnomAD v3: 2-27084919-TCAG-T
• gnomAD v4: 2-27084919-TCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27084923_27084925del , CM000664.2:g.27084923_27084925del	GRCh38
NC_000002.11:g.27307791_27307793del , CM000664.1:g.27307791_27307793del	GRCh37
NC_000002.10:g.27161295_27161297del	NCBI36
NG_012199.1:g.3181_3183del
NG_046849.1:g.11357_11359del
NG_012199.2:g.3181_3183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2558-68_2558-66del MANE Select	ENSP00000369677.4:n.2558-68_2558-66del
ENST00000380320.8:c.2558-68_2558-66del	ENSP00000369677.4:n.2558-68_2558-66del
ENST00000433140.1:c.550-68_550-66del
NM_007046.3:c.2558-68_2558-66del	NP_008977.1:n.2558-68_2558-66del
XM_006711928.2:c.2558-68_2558-66del	XP_006711991.1:n.2558-68_2558-66del
NM_007046.4:c.2558-68_2558-66del MANE Select	NP_008977.1:n.2558-68_2558-66del