Canonical Allele Identifier: CA1240109715

Gene: EMILIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085302_27085303delinsTC , CM000664.2:g.27085302_27085303delinsTC	GRCh38
NC_000002.11:g.27308170_27308171delinsTC , CM000664.1:g.27308170_27308171delinsTC	GRCh37
NC_000002.10:g.27161674_27161675delinsTC	NCBI36
NG_012199.1:g.3560_3561delinsTC
NG_046849.1:g.11736_11737delinsTC
NG_012199.2:g.3560_3561delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2713+5_2713+6delinsTC MANE Select	ENSP00000369677.4:n.2713+5_2713+6delinsTC
ENST00000380320.8:c.2713+5_2713+6delinsTC	ENSP00000369677.4:n.2713+5_2713+6delinsTC
ENST00000433140.1:c.705+5_705+6delinsTC
NM_007046.3:c.2713+5_2713+6delinsTC	NP_008977.1:n.2713+5_2713+6delinsTC
XM_006711928.2:c.2575+294_2575+295delinsTC	XP_006711991.1:n.2575+294_2575+295delinsTC
NM_007046.4:c.2713+5_2713+6delinsTC MANE Select	NP_008977.1:n.2713+5_2713+6delinsTC