Canonical Allele Identifier: CA49743542

Gene: DYSF

Linked Data

• dbSNP Id: rs540238409
• gnomAD v2: 2-71793157-CCCCCAT-C
• gnomAD v3: 2-71566027-CCCCCAT-C
• gnomAD v4: 2-71566027-CCCCCAT-C
• MyVariant Identifiers: chr2:g.71793158_71793163del (hg19) ; chr2:g.71566028_71566033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71566030_71566035del , CM000664.2:g.71566030_71566035del	GRCh38
NC_000002.11:g.71793160_71793165del , CM000664.1:g.71793160_71793165del	GRCh37
NC_000002.10:g.71646668_71646673del	NCBI36
NG_008694.1:g.117408_117413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.2511+1817_2511+1822del MANE Plus Clinical	ENSP00000258104.3:n.2511+1817_2511+1822del
ENST00000410020.8:c.2565+1817_2565+1822del MANE Select	ENSP00000386881.3:n.2565+1817_2565+1822del
ENST00000258104.7:c.2511+1817_2511+1822del	ENSP00000258104.3:n.2511+1817_2511+1822del
ENST00000394120.6:c.2514+1817_2514+1822del	ENSP00000377678.2:n.2514+1817_2514+1822del
ENST00000409366.5:c.2514+1817_2514+1822del	ENSP00000386512.1:n.2514+1817_2514+1822del
ENST00000409582.7:c.2562+1817_2562+1822del	ENSP00000386547.3:n.2562+1817_2562+1822del
ENST00000409651.5:c.2607+1817_2607+1822del	ENSP00000386683.1:n.2607+1817_2607+1822del
ENST00000409744.5:c.2472+1817_2472+1822del	ENSP00000386285.1:n.2472+1817_2472+1822del
ENST00000409762.5:c.2562+1817_2562+1822del	ENSP00000387137.1:n.2562+1817_2562+1822del
ENST00000410020.7:c.2565+1817_2565+1822del	ENSP00000386881.3:n.2565+1817_2565+1822del
ENST00000410041.1:c.2565+1817_2565+1822del	ENSP00000386617.1:n.2565+1817_2565+1822del
ENST00000413539.6:c.2604+1817_2604+1822del	ENSP00000407046.2:n.2604+1817_2604+1822del
ENST00000429174.6:c.2511+1817_2511+1822del	ENSP00000398305.2:n.2511+1817_2511+1822del
NM_001130455.1:c.2514+1817_2514+1822del	NP_001123927.1:n.2514+1817_2514+1822del
NM_001130976.1:c.2469+1817_2469+1822del	NP_001124448.1:n.2469+1817_2469+1822del
NM_001130977.1:c.2469+1817_2469+1822del	NP_001124449.1:n.2469+1817_2469+1822del
NM_001130978.1:c.2511+1817_2511+1822del	NP_001124450.1:n.2511+1817_2511+1822del
NM_001130979.1:c.2604+1817_2604+1822del	NP_001124451.1:n.2604+1817_2604+1822del
NM_001130980.1:c.2562+1817_2562+1822del	NP_001124452.1:n.2562+1817_2562+1822del
NM_001130981.1:c.2562+1817_2562+1822del	NP_001124453.1:n.2562+1817_2562+1822del
NM_001130982.1:c.2607+1817_2607+1822del	NP_001124454.1:n.2607+1817_2607+1822del
NM_001130983.1:c.2514+1817_2514+1822del	NP_001124455.1:n.2514+1817_2514+1822del
NM_001130984.1:c.2472+1817_2472+1822del	NP_001124456.1:n.2472+1817_2472+1822del
NM_001130985.1:c.2565+1817_2565+1822del	NP_001124457.1:n.2565+1817_2565+1822del
NM_001130986.1:c.2472+1817_2472+1822del	NP_001124458.1:n.2472+1817_2472+1822del
NM_001130987.1:c.2565+1817_2565+1822del	NP_001124459.1:n.2565+1817_2565+1822del
NM_003494.3:c.2511+1817_2511+1822del	NP_003485.1:n.2511+1817_2511+1822del
XM_005264584.3:c.2607+1817_2607+1822del	XP_005264641.1:n.2607+1817_2607+1822del
XM_005264585.3:c.2604+1817_2604+1822del	XP_005264642.1:n.2604+1817_2604+1822del
XM_005264584.4:c.2607+1817_2607+1822del	XP_005264641.1:n.2607+1817_2607+1822del
XM_005264585.5:c.2604+1817_2604+1822del	XP_005264642.1:n.2604+1817_2604+1822del
XR_001738969.1:n.2765+1817_2765+1822del
NM_001130987.2:c.2565+1817_2565+1822del MANE Select	NP_001124459.1:n.2565+1817_2565+1822del
NM_001130455.2:c.2514+1817_2514+1822del	NP_001123927.1:n.2514+1817_2514+1822del
NM_001130976.2:c.2469+1817_2469+1822del	NP_001124448.1:n.2469+1817_2469+1822del
NM_001130977.2:c.2469+1817_2469+1822del	NP_001124449.1:n.2469+1817_2469+1822del
NM_001130978.2:c.2511+1817_2511+1822del	NP_001124450.1:n.2511+1817_2511+1822del
NM_001130979.2:c.2604+1817_2604+1822del	NP_001124451.1:n.2604+1817_2604+1822del
NM_001130980.2:c.2562+1817_2562+1822del	NP_001124452.1:n.2562+1817_2562+1822del
NM_001130981.2:c.2562+1817_2562+1822del	NP_001124453.1:n.2562+1817_2562+1822del
NM_001130982.2:c.2607+1817_2607+1822del	NP_001124454.1:n.2607+1817_2607+1822del
NM_001130983.2:c.2514+1817_2514+1822del	NP_001124455.1:n.2514+1817_2514+1822del
NM_001130984.2:c.2472+1817_2472+1822del	NP_001124456.1:n.2472+1817_2472+1822del
NM_001130985.2:c.2565+1817_2565+1822del	NP_001124457.1:n.2565+1817_2565+1822del
NM_001130986.2:c.2472+1817_2472+1822del	NP_001124458.1:n.2472+1817_2472+1822del
NM_003494.4:c.2511+1817_2511+1822del MANE Plus Clinical	NP_003485.1:n.2511+1817_2511+1822del