Canonical Allele Identifier: CA533258333

Gene: DYSF

Linked Data

• gnomAD v2: 2-71793486-A-AAC
• MyVariant Identifiers: chr2:g.71793486_71793487insAC (hg19) ; chr2:g.71566356_71566357insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71566357_71566358insCA , CM000664.2:g.71566357_71566358insCA	GRCh38
NC_000002.11:g.71793487_71793488insCA , CM000664.1:g.71793487_71793488insCA	GRCh37
NC_000002.10:g.71646995_71646996insCA	NCBI36
NG_008694.1:g.117735_117736insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.2512-1594_2512-1593insCA MANE Plus Clinical	ENSP00000258104.3:n.2512-1594_2512-1593insCA
ENST00000410020.8:c.2566-1594_2566-1593insCA MANE Select	ENSP00000386881.3:n.2566-1594_2566-1593insCA
ENST00000258104.7:c.2512-1594_2512-1593insCA	ENSP00000258104.3:n.2512-1594_2512-1593insCA
ENST00000394120.6:c.2515-1594_2515-1593insCA	ENSP00000377678.2:n.2515-1594_2515-1593insCA
ENST00000409366.5:c.2515-1594_2515-1593insCA	ENSP00000386512.1:n.2515-1594_2515-1593insCA
ENST00000409582.7:c.2563-1594_2563-1593insCA	ENSP00000386547.3:n.2563-1594_2563-1593insCA
ENST00000409651.5:c.2608-1594_2608-1593insCA	ENSP00000386683.1:n.2608-1594_2608-1593insCA
ENST00000409744.5:c.2473-1594_2473-1593insCA	ENSP00000386285.1:n.2473-1594_2473-1593insCA
ENST00000409762.5:c.2563-1594_2563-1593insCA	ENSP00000387137.1:n.2563-1594_2563-1593insCA
ENST00000410020.7:c.2566-1594_2566-1593insCA	ENSP00000386881.3:n.2566-1594_2566-1593insCA
ENST00000410041.1:c.2566-1594_2566-1593insCA	ENSP00000386617.1:n.2566-1594_2566-1593insCA
ENST00000413539.6:c.2605-1594_2605-1593insCA	ENSP00000407046.2:n.2605-1594_2605-1593insCA
ENST00000429174.6:c.2512-1594_2512-1593insCA	ENSP00000398305.2:n.2512-1594_2512-1593insCA
NM_001130455.1:c.2515-1594_2515-1593insCA	NP_001123927.1:n.2515-1594_2515-1593insCA
NM_001130976.1:c.2470-1594_2470-1593insCA	NP_001124448.1:n.2470-1594_2470-1593insCA
NM_001130977.1:c.2470-1594_2470-1593insCA	NP_001124449.1:n.2470-1594_2470-1593insCA
NM_001130978.1:c.2512-1594_2512-1593insCA	NP_001124450.1:n.2512-1594_2512-1593insCA
NM_001130979.1:c.2605-1594_2605-1593insCA	NP_001124451.1:n.2605-1594_2605-1593insCA
NM_001130980.1:c.2563-1594_2563-1593insCA	NP_001124452.1:n.2563-1594_2563-1593insCA
NM_001130981.1:c.2563-1594_2563-1593insCA	NP_001124453.1:n.2563-1594_2563-1593insCA
NM_001130982.1:c.2608-1594_2608-1593insCA	NP_001124454.1:n.2608-1594_2608-1593insCA
NM_001130983.1:c.2515-1594_2515-1593insCA	NP_001124455.1:n.2515-1594_2515-1593insCA
NM_001130984.1:c.2473-1594_2473-1593insCA	NP_001124456.1:n.2473-1594_2473-1593insCA
NM_001130985.1:c.2566-1594_2566-1593insCA	NP_001124457.1:n.2566-1594_2566-1593insCA
NM_001130986.1:c.2473-1594_2473-1593insCA	NP_001124458.1:n.2473-1594_2473-1593insCA
NM_001130987.1:c.2566-1594_2566-1593insCA	NP_001124459.1:n.2566-1594_2566-1593insCA
NM_003494.3:c.2512-1594_2512-1593insCA	NP_003485.1:n.2512-1594_2512-1593insCA
XM_005264584.3:c.2608-1594_2608-1593insCA	XP_005264641.1:n.2608-1594_2608-1593insCA
XM_005264585.3:c.2605-1594_2605-1593insCA	XP_005264642.1:n.2605-1594_2605-1593insCA
XM_005264584.4:c.2608-1594_2608-1593insCA	XP_005264641.1:n.2608-1594_2608-1593insCA
XM_005264585.5:c.2605-1594_2605-1593insCA	XP_005264642.1:n.2605-1594_2605-1593insCA
XR_001738969.1:n.2766-1594_2766-1593insCA
NM_001130987.2:c.2566-1594_2566-1593insCA MANE Select	NP_001124459.1:n.2566-1594_2566-1593insCA
NM_001130455.2:c.2515-1594_2515-1593insCA	NP_001123927.1:n.2515-1594_2515-1593insCA
NM_001130976.2:c.2470-1594_2470-1593insCA	NP_001124448.1:n.2470-1594_2470-1593insCA
NM_001130977.2:c.2470-1594_2470-1593insCA	NP_001124449.1:n.2470-1594_2470-1593insCA
NM_001130978.2:c.2512-1594_2512-1593insCA	NP_001124450.1:n.2512-1594_2512-1593insCA
NM_001130979.2:c.2605-1594_2605-1593insCA	NP_001124451.1:n.2605-1594_2605-1593insCA
NM_001130980.2:c.2563-1594_2563-1593insCA	NP_001124452.1:n.2563-1594_2563-1593insCA
NM_001130981.2:c.2563-1594_2563-1593insCA	NP_001124453.1:n.2563-1594_2563-1593insCA
NM_001130982.2:c.2608-1594_2608-1593insCA	NP_001124454.1:n.2608-1594_2608-1593insCA
NM_001130983.2:c.2515-1594_2515-1593insCA	NP_001124455.1:n.2515-1594_2515-1593insCA
NM_001130984.2:c.2473-1594_2473-1593insCA	NP_001124456.1:n.2473-1594_2473-1593insCA
NM_001130985.2:c.2566-1594_2566-1593insCA	NP_001124457.1:n.2566-1594_2566-1593insCA
NM_001130986.2:c.2473-1594_2473-1593insCA	NP_001124458.1:n.2473-1594_2473-1593insCA
NM_003494.4:c.2512-1594_2512-1593insCA MANE Plus Clinical	NP_003485.1:n.2512-1594_2512-1593insCA