Canonical Allele Identifier: CA539843256

Gene: DES

Linked Data

• dbSNP Id: rs1199871561
• gnomAD v2: 2-220286284-T-TCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC
• gnomAD v4: 2-219421562-T-TCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC
• MyVariant Identifiers: chr2:g.220286284_220286285insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC (hg19) ; chr2:g.219421562_219421563insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421562_219421563insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC , CM000664.2:g.219421562_219421563insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	GRCh38
NC_000002.11:g.220286284_220286285insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC , CM000664.1:g.220286284_220286285insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	GRCh37
NC_000002.10:g.219994528_219994529insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	NCBI36
NG_008043.1:g.8186_8187insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC , LRG_380:g.8186_8187insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.718+2_718+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC
ENST00000683013.1:n.632+2_632+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC
ENST00000373960.4:c.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC MANE Select	ENSP00000363071.3:n.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCT...
ENST00000373960.3:c.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	ENSP00000363071.3:n.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCT...
ENST00000477226.5:n.716+2_716+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC
ENST00000492726.1:n.639+2_639+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC
NM_001927.3:c.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC , LRG_380t1:c.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	NP_001918.3:n.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCTGCCCTC...
NM_001927.4:c.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC MANE Select	NP_001918.3:n.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCTGCCCTC...
NM_001382708.1:c.1241+2_1241+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	NP_001369637.1:n.1241+2_1241+3insCAATCTCCCCATCCAGACCTACTCTGCC...
NM_001382709.1:c.812+2_812+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	NP_001369638.1:n.812+2_812+3insCAATCTCCCCATCCAGACCTACTCTGCCCT...
NM_001382710.1:c.1175+2_1175+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	NP_001369639.1:n.1175+2_1175+3insCAATCTCCCCATCCAGACCTACTCTGCC...
NM_001382711.1:c.1223+2_1223+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	NP_001369640.1:n.1223+2_1223+3insCAATCTCCCCATCCAGACCTACTCTGCC...
NM_001382712.1:c.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	NP_001369641.1:n.1244+2_1244+3insCAATCTCCCCATCCAGACCTACTCTGCC...
NM_001382713.1:c.974+2_974+3insCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC	NP_001369642.1:n.974+2_974+3insCAATCTCCCCATCCAGACCTACTCTGCCCT...