Canonical Allele Identifier: CA2740094255

Gene: DSP

Linked Data

• ClinVar Variation Id: 2935841
• ClinVar RCV Id: RCV003793935

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579536_7579544del , CM000668.2:g.7579536_7579544del	GRCh38
NC_000006.11:g.7579769_7579777del , CM000668.1:g.7579769_7579777del	GRCh37
NC_000006.10:g.7524768_7524776del	NCBI36
NG_008803.1:g.42900_42908del , LRG_423:g.42900_42908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3346_3354del	ENSP00000518230.1:p.Tyr1116_Ile1118del
ENST00000379802.8:c.3346_3354del MANE Select	ENSP00000369129.3:p.Tyr1116_Ile1118del
ENST00000379802.7:c.3346_3354del	ENSP00000369129.3:p.Tyr1116_Ile1118del
ENST00000418664.2:c.3346_3354del	ENSP00000396591.2:p.Tyr1116_Ile1118del
NM_001008844.1:c.3346_3354del	NP_001008844.1:p.Tyr1116_Ile1118del
NM_004415.2:c.3346_3354del , LRG_423t1:c.3346_3354del	NP_004406.2:p.Tyr1116_Ile1118del
XM_011514323.1:c.3346_3354del	XP_011512625.1:p.Tyr1116_Ile1118del
NM_001008844.2:c.3346_3354del	NP_001008844.1:p.Tyr1116_Ile1118del
NM_001319034.1:c.3346_3354del	NP_001305963.1:p.Tyr1116_Ile1118del
NM_004415.3:c.3346_3354del	NP_004406.2:p.Tyr1116_Ile1118del
NM_004415.4:c.3346_3354del MANE Select	NP_004406.2:p.Tyr1116_Ile1118del
NM_001008844.3:c.3346_3354del	NP_001008844.1:p.Tyr1116_Ile1118del
NM_001319034.2:c.3346_3354del	NP_001305963.1:p.Tyr1116_Ile1118del