Canonical Allele Identifier: CA565358227

Gene: DSP

Linked Data

• dbSNP Id: rs1267018807
• gnomAD v2: 6-7585944-TACAACATG-T
• gnomAD v4: 6-7585711-TACAACATG-T
• MyVariant Identifiers: chr6:g.7585945_7585952del (hg19) ; chr6:g.7585712_7585719del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585712_7585719del , CM000668.2:g.7585712_7585719del	GRCh38
NC_000006.11:g.7585945_7585952del , CM000668.1:g.7585945_7585952del	GRCh37
NC_000006.10:g.7530944_7530951del	NCBI36
NG_008803.1:g.49076_49083del , LRG_423:g.49076_49083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7121_7128del	ENSP00000518230.1:p.Tyr2374PhefsTer?
ENST00000379802.8:c.8450_8457del MANE Select	ENSP00000369129.3:p.Tyr2817PhefsTer?
ENST00000379802.7:c.8450_8457del	ENSP00000369129.3:p.Tyr2817PhefsTer?
ENST00000418664.2:c.6653_6660del	ENSP00000396591.2:p.Tyr2218PhefsTer?
NM_001008844.1:c.6653_6660del	NP_001008844.1:p.Tyr2218PhefsTer?
NM_004415.2:c.8450_8457del , LRG_423t1:c.8450_8457del	NP_004406.2:p.Tyr2817PhefsTer?
XM_011514323.1:c.7121_7128del	XP_011512625.1:p.Tyr2374PhefsTer?
NM_001008844.2:c.6653_6660del	NP_001008844.1:p.Tyr2218PhefsTer?
NM_001319034.1:c.7121_7128del	NP_001305963.1:p.Tyr2374PhefsTer?
NM_004415.3:c.8450_8457del	NP_004406.2:p.Tyr2817PhefsTer?
NM_004415.4:c.8450_8457del MANE Select	NP_004406.2:p.Tyr2817PhefsTer?
NM_001008844.3:c.6653_6660del	NP_001008844.1:p.Tyr2218PhefsTer?
NM_001319034.2:c.7121_7128del	NP_001305963.1:p.Tyr2374PhefsTer?