Canonical Allele Identifier: CA1329213084

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425632_219425633delinsCA , CM000664.2:g.219425632_219425633delinsCA	GRCh38
NC_000002.11:g.220290354_220290355delinsCA , CM000664.1:g.220290354_220290355delinsCA	GRCh37
NC_000002.10:g.219998598_219998599delinsCA	NCBI36
NG_008043.1:g.12256_12257delinsCA , LRG_380:g.12256_12257delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.763-31_763-30delinsCA
ENST00000683013.1:n.677-31_677-30delinsCA
ENST00000373960.4:c.1289-31_1289-30delinsCA MANE Select	ENSP00000363071.3:n.1289-31_1289-30delins...
ENST00000373960.3:c.1289-31_1289-30delinsCA	ENSP00000363071.3:n.1289-31_1289-30delins...
ENST00000483395.1:n.113_114delinsCA
NM_001927.3:c.1289-31_1289-30delinsCA , LRG_380t1:c.1289-31_1289-30delinsCA	NP_001918.3:n.1289-31_1289-30delinsCA
NM_001927.4:c.1289-31_1289-30delinsCA MANE Select	NP_001918.3:n.1289-31_1289-30delinsCA
NM_001382708.1:c.1286-31_1286-30delinsCA	NP_001369637.1:n.1286-31_1286-30delinsCA
NM_001382709.1:c.857-31_857-30delinsCA	NP_001369638.1:n.857-31_857-30delinsCA
NM_001382710.1:c.1220-31_1220-30delinsCA	NP_001369639.1:n.1220-31_1220-30delinsCA
NM_001382711.1:c.1268-31_1268-30delinsCA	NP_001369640.1:n.1268-31_1268-30delinsCA
NM_001382712.1:c.1289-31_1289-30delinsCA	NP_001369641.1:n.1289-31_1289-30delinsCA
NM_001382713.1:c.1019-31_1019-30delinsCA	NP_001369642.1:n.1019-31_1019-30delinsCA