Canonical Allele Identifier: CA1329213118

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425705_219425709delinsAGACG , CM000664.2:g.219425705_219425709delinsAGACG	GRCh38
NC_000002.11:g.220290427_220290431delinsAGACG , CM000664.1:g.220290427_220290431delinsAGACG	GRCh37
NC_000002.10:g.219998671_219998675delinsAGACG	NCBI36
NG_008043.1:g.12329_12333delinsAGACG , LRG_380:g.12329_12333delinsAGACG

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.805_809delinsAGACG
ENST00000683013.1:n.719_723delinsAGACG
ENST00000373960.4:c.1331_1335delinsAGACG MANE Select	ENSP00000363071.3:p.Lys444=
ENST00000373960.3:c.1331_1335delinsAGACG	ENSP00000363071.3:p.Lys444=
ENST00000483395.1:n.186_190delinsAGACG
NM_001927.3:c.1331_1335delinsAGACG , LRG_380t1:c.1331_1335delinsAGACG	NP_001918.3:p.Lys444=
NM_001927.4:c.1331_1335delinsAGACG MANE Select	NP_001918.3:p.Lys444=
NM_001382708.1:c.1328_1332delinsAGACG	NP_001369637.1:p.Lys443=
NM_001382709.1:c.899_903delinsAGACG	NP_001369638.1:p.Lys300=
NM_001382710.1:c.1262_1266delinsAGACG	NP_001369639.1:p.Lys421=
NM_001382711.1:c.1310_1314delinsAGACG	NP_001369640.1:p.Lys437=
NM_001382712.1:c.1331_1335delinsAGACG	NP_001369641.1:p.Lys444=
NM_001382713.1:c.1061_1065delinsAGACG	NP_001369642.1:p.Lys354=