Canonical Allele Identifier: CA3628099

Gene: DSP

Linked Data

• dbSNP Id: rs767811940
• ExAC: 6:7583315 TAAACTC / T
• gnomAD v2: 6-7583315-TAAACTC-T
• gnomAD v4: 6-7583082-TAAACTC-T
• MyVariant Identifiers: chr6:g.7583316_7583321del (hg19) ; chr6:g.7583083_7583088del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583084_7583089del , CM000668.2:g.7583084_7583089del	GRCh38
NC_000006.11:g.7583317_7583322del , CM000668.1:g.7583317_7583322del	GRCh37
NC_000006.10:g.7528316_7528321del	NCBI36
NG_008803.1:g.46448_46453del , LRG_423:g.46448_46453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4493_4498del	ENSP00000518230.1:p.Lys1498_Leu1499del
ENST00000379802.8:c.5822_5827del MANE Select	ENSP00000369129.3:p.Lys1941_Leu1942del
ENST00000379802.7:c.5822_5827del	ENSP00000369129.3:p.Lys1941_Leu1942del
ENST00000418664.2:c.4025_4030del	ENSP00000396591.2:p.Lys1342_Leu1343del
NM_001008844.1:c.4025_4030del	NP_001008844.1:p.Lys1342_Leu1343del
NM_004415.2:c.5822_5827del , LRG_423t1:c.5822_5827del	NP_004406.2:p.Lys1941_Leu1942del
XM_011514323.1:c.4493_4498del	XP_011512625.1:p.Lys1498_Leu1499del
NM_001008844.2:c.4025_4030del	NP_001008844.1:p.Lys1342_Leu1343del
NM_001319034.1:c.4493_4498del	NP_001305963.1:p.Lys1498_Leu1499del
NM_004415.3:c.5822_5827del	NP_004406.2:p.Lys1941_Leu1942del
NM_004415.4:c.5822_5827del MANE Select	NP_004406.2:p.Lys1941_Leu1942del
NM_001008844.3:c.4025_4030del	NP_001008844.1:p.Lys1342_Leu1343del
NM_001319034.2:c.4493_4498del	NP_001305963.1:p.Lys1498_Leu1499del