Canonical Allele Identifier: CA1329210137

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418994_219419009delinsGTCGAGCGCGACAACC , CM000664.2:g.219418994_219419009delinsGTCGAGCGCGACAACC	GRCh38
NC_000002.11:g.220283716_220283731delinsGTCGAGCGCGACAACC , CM000664.1:g.220283716_220283731delinsGTCGAGCGCGACAACC	GRCh37
NC_000002.10:g.219991960_219991975delinsGTCGAGCGCGACAACC	NCBI36
NG_008043.1:g.5618_5633delinsGTCGAGCGCGACAACC , LRG_380:g.5618_5633delinsGTCGAGCGCGACAACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.532_547delinsGTCGAGCGCGACAACC MANE Select	ENSP00000363071.3:p.Val178=
ENST00000373960.3:c.532_547delinsGTCGAGCGCGACAACC	ENSP00000363071.3:p.Val178=
NM_001927.3:c.532_547delinsGTCGAGCGCGACAACC , LRG_380t1:c.532_547delinsGTCGAGCGCGACAACC	NP_001918.3:p.Val178=
NM_001927.4:c.532_547delinsGTCGAGCGCGACAACC MANE Select	NP_001918.3:p.Val178=
NM_001382708.1:c.532_547delinsGTCGAGCGCGACAACC	NP_001369637.1:p.Val178=
NM_001382709.1:c.532_547delinsGTCGAGCGCGACAACC	NP_001369638.1:p.Val178=
NM_001382710.1:c.532_547delinsGTCGAGCGCGACAACC	NP_001369639.1:p.Val178=
NM_001382711.1:c.532_547delinsGTCGAGCGCGACAACC	NP_001369640.1:p.Val178=
NM_001382712.1:c.532_547delinsGTCGAGCGCGACAACC	NP_001369641.1:p.Val178=
NM_001382713.1:c.495+37_495+52delinsGTCGAGCGCGACAACC	NP_001369642.1:n.495+37_495+52delinsGTCGA...