Canonical Allele Identifier: CA828077130

Gene: DSP

Linked Data

• ClinVar Variation Id: 1018579
• ClinVar RCV Id: RCV001317906
• dbSNP Id: rs1405952840
• gnomAD v4: 6-7579556-GAGA-G
• MyVariant Identifiers: chr6:g.7579790_7579792del (hg19) ; chr6:g.7579557_7579559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579564_7579566del , CM000668.2:g.7579564_7579566del	GRCh38
NC_000006.11:g.7579797_7579799del , CM000668.1:g.7579797_7579799del	GRCh37
NC_000006.10:g.7524796_7524798del	NCBI36
NG_008803.1:g.42928_42930del , LRG_423:g.42928_42930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3374_3376del	ENSP00000518230.1:p.Arg1125del
ENST00000379802.8:c.3374_3376del MANE Select	ENSP00000369129.3:p.Arg1125del
ENST00000379802.7:c.3374_3376del	ENSP00000369129.3:p.Arg1125del
ENST00000418664.2:c.3374_3376del	ENSP00000396591.2:p.Arg1125del
NM_001008844.1:c.3374_3376del	NP_001008844.1:p.Arg1125del
NM_004415.2:c.3374_3376del , LRG_423t1:c.3374_3376del	NP_004406.2:p.Arg1125del
XM_011514323.1:c.3374_3376del	XP_011512625.1:p.Arg1125del
NM_001008844.2:c.3374_3376del	NP_001008844.1:p.Arg1125del
NM_001319034.1:c.3374_3376del	NP_001305963.1:p.Arg1125del
NM_004415.3:c.3374_3376del	NP_004406.2:p.Arg1125del
NM_004415.4:c.3374_3376del MANE Select	NP_004406.2:p.Arg1125del
NM_001008844.3:c.3374_3376del	NP_001008844.1:p.Arg1125del
NM_001319034.2:c.3374_3376del	NP_001305963.1:p.Arg1125del