Canonical Allele Identifier: CA1329210285

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419268_219419269delinsCA , CM000664.2:g.219419268_219419269delinsCA	GRCh38
NC_000002.11:g.220283990_220283991delinsCA , CM000664.1:g.220283990_220283991delinsCA	GRCh37
NC_000002.10:g.219992234_219992235delinsCA	NCBI36
NG_008043.1:g.5892_5893delinsCA , LRG_380:g.5892_5893delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.578+228_578+229delinsCA MANE Select	ENSP00000363071.3:n.578+228_578+229delinsCA
ENST00000373960.3:c.578+228_578+229delinsCA	ENSP00000363071.3:n.578+228_578+229delinsCA
NM_001927.3:c.578+228_578+229delinsCA , LRG_380t1:c.578+228_578+229delinsCA	NP_001918.3:n.578+228_578+229delinsCA
NM_001927.4:c.578+228_578+229delinsCA MANE Select	NP_001918.3:n.578+228_578+229delinsCA
NM_001382708.1:c.578+228_578+229delinsCA	NP_001369637.1:n.578+228_578+229delinsCA
NM_001382709.1:c.578+228_578+229delinsCA	NP_001369638.1:n.578+228_578+229delinsCA
NM_001382710.1:c.578+228_578+229delinsCA	NP_001369639.1:n.578+228_578+229delinsCA
NM_001382711.1:c.578+228_578+229delinsCA	NP_001369640.1:n.578+228_578+229delinsCA
NM_001382712.1:c.578+228_578+229delinsCA	NP_001369641.1:n.578+228_578+229delinsCA
NM_001382713.1:c.495+311_495+312delinsCA	NP_001369642.1:n.495+311_495+312delinsCA