Canonical Allele Identifier: CA3628104

Gene: DSP

Linked Data

• ClinVar Variation Id: 848944
• ClinVar RCV Id: RCV001052802 ; RCV001190888 ; RCV002445282 ; RCV003989634
• dbSNP Id: rs397516971
• ExAC: 6:7585988 G / GGGATCTCGCTCC
• gnomAD v2: 6-7585988-G-GGGATCTCGCTCC
• gnomAD v3: 6-7585755-G-GGGATCTCGCTCC
• gnomAD v4: 6-7585755-G-GGGATCTCGCTCC
• MyVariant Identifiers: chr6:g.7586000_7586001insGGATCTCGCTCC (hg19) ; chr6:g.7585988_7585989insGGATCTCGCTCC (hg19) ; chr6:g.7585767_7585768insGGATCTCGCTCC (hg38) ; chr6:g.7585755_7585756insGGATCTCGCTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585770_7585781dup , CM000668.2:g.7585770_7585781dup	GRCh38
NC_000006.11:g.7586003_7586014dup , CM000668.1:g.7586003_7586014dup	GRCh37
NC_000006.10:g.7531002_7531013dup	NCBI36
NG_008803.1:g.49134_49145dup , LRG_423:g.49134_49145dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7179_7190dup	ENSP00000518230.1:p.Gly2397_Ser2398insSerArgSerGly
ENST00000379802.8:c.8508_8519dup MANE Select	ENSP00000369129.3:p.Gly2840_Ser2841insSerArgSerGly
ENST00000379802.7:c.8508_8519dup	ENSP00000369129.3:p.Gly2840_Ser2841insSerArgSerGly
ENST00000418664.2:c.6711_6722dup	ENSP00000396591.2:p.Gly2241_Ser2242insSerArgSerGly
NM_001008844.1:c.6711_6722dup	NP_001008844.1:p.Gly2241_Ser2242insSerArgSerGly
NM_004415.2:c.8508_8519dup , LRG_423t1:c.8508_8519dup	NP_004406.2:p.Gly2840_Ser2841insSerArgSerGly
XM_011514323.1:c.7179_7190dup	XP_011512625.1:p.Gly2397_Ser2398insSerArgSerGly
NM_001008844.2:c.6711_6722dup	NP_001008844.1:p.Gly2241_Ser2242insSerArgSerGly
NM_001319034.1:c.7179_7190dup	NP_001305963.1:p.Gly2397_Ser2398insSerArgSerGly
NM_004415.3:c.8508_8519dup	NP_004406.2:p.Gly2840_Ser2841insSerArgSerGly
NM_004415.4:c.8508_8519dup MANE Select	NP_004406.2:p.Gly2840_Ser2841insSerArgSerGly
NM_001008844.3:c.6711_6722dup	NP_001008844.1:p.Gly2241_Ser2242insSerArgSerGly
NM_001319034.2:c.7179_7190dup	NP_001305963.1:p.Gly2397_Ser2398insSerArgSerGly