Canonical Allele Identifier: CA1329210120

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418976_219418997delinsCAGCGCGCGCGCGTCGACGTCG , CM000664.2:g.219418976_219418997delinsCAGCGCGCGCGCGTCGACGTCG	GRCh38
NC_000002.11:g.220283698_220283719delinsCAGCGCGCGCGCGTCGACGTCG , CM000664.1:g.220283698_220283719delinsCAGCGCGCGCGCGTCGACGTCG	GRCh37
NC_000002.10:g.219991942_219991963delinsCAGCGCGCGCGCGTCGACGTCG	NCBI36
NG_008043.1:g.5600_5621delinsCAGCGCGCGCGCGTCGACGTCG , LRG_380:g.5600_5621delinsCAGCGCGCGCGCGTCGACGTCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.514_535delinsCAGCGCGCGCGCGTCGACGTCG MANE Select	ENSP00000363071.3:p.Gln172=
ENST00000373960.3:c.514_535delinsCAGCGCGCGCGCGTCGACGTCG	ENSP00000363071.3:p.Gln172=
NM_001927.3:c.514_535delinsCAGCGCGCGCGCGTCGACGTCG , LRG_380t1:c.514_535delinsCAGCGCGCGCGCGTCGACGTCG	NP_001918.3:p.Gln172=
NM_001927.4:c.514_535delinsCAGCGCGCGCGCGTCGACGTCG MANE Select	NP_001918.3:p.Gln172=
NM_001382708.1:c.514_535delinsCAGCGCGCGCGCGTCGACGTCG	NP_001369637.1:p.Gln172=
NM_001382709.1:c.514_535delinsCAGCGCGCGCGCGTCGACGTCG	NP_001369638.1:p.Gln172=
NM_001382710.1:c.514_535delinsCAGCGCGCGCGCGTCGACGTCG	NP_001369639.1:p.Gln172=
NM_001382711.1:c.514_535delinsCAGCGCGCGCGCGTCGACGTCG	NP_001369640.1:p.Gln172=
NM_001382712.1:c.514_535delinsCAGCGCGCGCGCGTCGACGTCG	NP_001369641.1:p.Gln172=
NM_001382713.1:c.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG	NP_001369642.1:n.495+19_495+40delinsCAGCG...