Canonical Allele Identifier: CA2573051866

Gene: DES

Linked Data

• dbSNP Id: rs2125168948

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421547_219421553del , CM000664.2:g.219421547_219421553del	GRCh38
NC_000002.11:g.220286269_220286275del , CM000664.1:g.220286269_220286275del	GRCh37
NC_000002.10:g.219994513_219994519del	NCBI36
NG_008043.1:g.8171_8177del , LRG_380:g.8171_8177del

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.705_711del
ENST00000683013.1:n.619_625del
ENST00000373960.4:c.1231_1237del MANE Select	ENSP00000363071.3:p.Gly411ArgfsTer?
ENST00000373960.3:c.1231_1237del	ENSP00000363071.3:p.Gly411ArgfsTer?
ENST00000477226.5:n.703_709del
ENST00000492726.1:n.626_632del
NM_001927.3:c.1231_1237del , LRG_380t1:c.1231_1237del	NP_001918.3:p.Gly411ArgfsTer?
NM_001927.4:c.1231_1237del MANE Select	NP_001918.3:p.Gly411ArgfsTer?
NM_001382708.1:c.1228_1234del	NP_001369637.1:p.Gly410ArgfsTer?
NM_001382709.1:c.799_805del	NP_001369638.1:p.Gly267ArgfsTer?
NM_001382710.1:c.1162_1168del	NP_001369639.1:p.Gly388ArgfsTer?
NM_001382711.1:c.1210_1216del	NP_001369640.1:p.Gly404ArgfsTer?
NM_001382712.1:c.1231_1237del	NP_001369641.1:p.Gly411ArgfsTer?
NM_001382713.1:c.961_967del	NP_001369642.1:p.Gly321ArgfsTer?