Canonical Allele Identifier: CA1329210675

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420174_219420191delinsCCCTTGCATGGCCTCTGG , CM000664.2:g.219420174_219420191delinsCCCTTGCATGGCCTCTGG	GRCh38
NC_000002.11:g.220284896_220284913delinsCCCTTGCATGGCCTCTGG , CM000664.1:g.220284896_220284913delinsCCCTTGCATGGCCTCTGG	GRCh37
NC_000002.10:g.219993140_219993157delinsCCCTTGCATGGCCTCTGG	NCBI36
NG_008043.1:g.6798_6815delinsCCCTTGCATGGCCTCTGG , LRG_380:g.6798_6815delinsCCCTTGCATGGCCTCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.113+19_113+36delinsCCCTTGCATGGCCTCTGG
ENST00000373960.4:c.639+19_639+36delinsCCCTTGCATGGCCTCTGG MANE Select	ENSP00000363071.3:n.639+19_639+36delinsCCCTTGCATGGCCTCTGG
ENST00000373960.3:c.639+19_639+36delinsCCCTTGCATGGCCTCTGG	ENSP00000363071.3:n.639+19_639+36delinsCCCTTGCATGGCCTCTGG
ENST00000477226.5:n.111+19_111+36delinsCCCTTGCATGGCCTCTGG
ENST00000492726.1:n.34+19_34+36delinsCCCTTGCATGGCCTCTGG
NM_001927.3:c.639+19_639+36delinsCCCTTGCATGGCCTCTGG , LRG_380t1:c.639+19_639+36delinsCCCTTGCATGGCCTCTGG	NP_001918.3:n.639+19_639+36delinsCCCTTGCATGGCCTCTGG
NM_001927.4:c.639+19_639+36delinsCCCTTGCATGGCCTCTGG MANE Select	NP_001918.3:n.639+19_639+36delinsCCCTTGCATGGCCTCTGG
NM_001382708.1:c.636+22_636+39delinsCCCTTGCATGGCCTCTGG	NP_001369637.1:n.636+22_636+39delinsCCCTTGCATGGCCTCTGG
NM_001382709.1:c.639+19_639+36delinsCCCTTGCATGGCCTCTGG	NP_001369638.1:n.639+19_639+36delinsCCCTTGCATGGCCTCTGG
NM_001382710.1:c.639+19_639+36delinsCCCTTGCATGGCCTCTGG	NP_001369639.1:n.639+19_639+36delinsCCCTTGCATGGCCTCTGG
NM_001382711.1:c.639+19_639+36delinsCCCTTGCATGGCCTCTGG	NP_001369640.1:n.639+19_639+36delinsCCCTTGCATGGCCTCTGG
NM_001382712.1:c.639+19_639+36delinsCCCTTGCATGGCCTCTGG	NP_001369641.1:n.639+19_639+36delinsCCCTTGCATGGCCTCTGG
NM_001382713.1:c.496-351_496-334delinsCCCTTGCATGGCCTCTGG	NP_001369642.1:n.496-351_496-334delinsCCCTTGCATGGCCTCTGG