Canonical Allele Identifier: CA1329209850

Gene: DES

Linked Data

• dbSNP Id: rs1954362327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418554_219418555insC , CM000664.2:g.219418554_219418555insC	GRCh38
NC_000002.11:g.220283276_220283277insC , CM000664.1:g.220283276_220283277insC	GRCh37
NC_000002.10:g.219991520_219991521insC	NCBI36
NG_008043.1:g.5178_5179insC , LRG_380:g.5178_5179insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.92_93insC MANE Select	ENSP00000363071.3:p.Ser32PhefsTer12
ENST00000373960.3:c.92_93insC	ENSP00000363071.3:p.Ser32PhefsTer12
NM_001927.3:c.92_93insC , LRG_380t1:c.92_93insC	NP_001918.3:p.Ser32PhefsTer12
NM_001927.4:c.92_93insC MANE Select	NP_001918.3:p.Ser32PhefsTer12
NM_001382708.1:c.92_93insC	NP_001369637.1:p.Ser32PhefsTer12
NM_001382709.1:c.92_93insC	NP_001369638.1:p.Ser32PhefsTer12
NM_001382710.1:c.92_93insC	NP_001369639.1:p.Ser32PhefsTer12
NM_001382711.1:c.92_93insC	NP_001369640.1:p.Ser32PhefsTer12
NM_001382712.1:c.92_93insC	NP_001369641.1:p.Ser32PhefsTer12
NM_001382713.1:c.92_93insC	NP_001369642.1:p.Ser32PhefsTer12