Canonical Allele Identifier: CA2663248211

Gene: DES

Linked Data

• gnomAD v4: 2-219418414-TGCCCGCCGCCTCCTCCGTGCGCCCGCCAGCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418421_219418453del , CM000664.2:g.219418421_219418453del	GRCh38
NC_000002.11:g.220283143_220283175del , CM000664.1:g.220283143_220283175del	GRCh37
NC_000002.10:g.219991387_219991419del	NCBI36
NG_008043.1:g.5045_5077del , LRG_380:g.5045_5077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.-42_-10del MANE Select	ENSP00000363071.3:n.-42_-10del
ENST00000373960.3:c.-42_-10del	ENSP00000363071.3:n.-42_-10del
NM_001927.3:c.-42_-10del , LRG_380t1:c.-42_-10del	NP_001918.3:n.-42_-10del
NM_001927.4:c.-42_-10del MANE Select	NP_001918.3:n.-42_-10del
NM_001382708.1:c.-42_-10del	NP_001369637.1:n.-42_-10del
NM_001382709.1:c.-42_-10del	NP_001369638.1:n.-42_-10del
NM_001382710.1:c.-42_-10del	NP_001369639.1:n.-42_-10del
NM_001382711.1:c.-42_-10del	NP_001369640.1:n.-42_-10del
NM_001382712.1:c.-42_-10del	NP_001369641.1:n.-42_-10del
NM_001382713.1:c.-42_-10del	NP_001369642.1:n.-42_-10del