Canonical Allele Identifier: CA5923472

Gene: ANO5

Linked Data

• ClinVar Variation Id: 1440062
• ClinVar RCV Id: RCV001978757
• dbSNP Id: rs746738154
• ExAC: 11:22294490 GCAAGA / G
• gnomAD v2: 11-22294490-GCAAGA-G
• MyVariant Identifiers: chr11:g.22294491_22294495del (hg19) ; chr11:g.22272945_22272949del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272947_22272951del , CM000673.2:g.22272947_22272951del	GRCh38
NC_000011.9:g.22294493_22294497del , CM000673.1:g.22294493_22294497del	GRCh37
NC_000011.8:g.22251069_22251073del	NCBI36
NG_015844.1:g.84772_84776del , LRG_868:g.84772_84776del

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.210_214del
ENST00000682266.1:c.1743_1747del	ENSP00000507766.1:p.Gln581HisfsTer13
ENST00000682341.1:c.2151_2155del	ENSP00000508251.1:p.Gln717HisfsTer13
ENST00000683197.1:c.2151_2155del	ENSP00000507641.1:p.Gln717HisfsTer13
ENST00000683411.1:c.1743_1747del	ENSP00000508397.1:p.Gln581HisfsTer13
ENST00000683437.1:c.1743_1747del	ENSP00000508408.1:p.Gln581HisfsTer13
ENST00000683613.1:n.3187_3191del
ENST00000684663.1:c.2148_2152del	ENSP00000508009.1:p.Gln716HisfsTer13
ENST00000324559.9:c.2193_2197del MANE Select	ENSP00000315371.9:p.Gln731HisfsTer13
ENST00000648804.1:n.2528_2532del
ENST00000324559.8:c.2193_2197del	ENSP00000315371.8:p.Gln731HisfsTer13
ENST00000532043.1:n.210_214del
NM_001142649.1:c.2190_2194del	NP_001136121.1:p.Gln730HisfsTer13
NM_213599.2:c.2193_2197del , LRG_868t1:c.2193_2197del	NP_998764.1:p.Gln731HisfsTer13
XM_005252820.2:c.2151_2155del	XP_005252877.2:p.Gln717HisfsTer13
XM_005252821.2:c.2148_2152del	XP_005252878.2:p.Gln716HisfsTer13
XM_005252822.3:c.2115_2119del	XP_005252879.1:p.Gln705HisfsTer13
XM_005252823.3:c.2112_2116del	XP_005252880.1:p.Gln704HisfsTer13
XM_011519949.1:c.2100_2104del	XP_011518251.1:p.Gln700HisfsTer13
XM_005252820.3:c.2151_2155del	XP_005252877.2:p.Gln717HisfsTer13
XM_005252821.3:c.2148_2152del	XP_005252878.2:p.Gln716HisfsTer13
XM_005252822.4:c.2115_2119del	XP_005252879.1:p.Gln705HisfsTer13
XM_011519949.2:c.2100_2104del	XP_011518251.1:p.Gln700HisfsTer13
NM_001142649.2:c.2190_2194del	NP_001136121.1:p.Gln730HisfsTer13
NM_213599.3:c.2193_2197del MANE Select	NP_998764.1:p.Gln731HisfsTer13