Canonical Allele Identifier: CA218776031

Gene: ANO5

Linked Data

• dbSNP Id: rs1022569761
• gnomAD v3: 11-22273089-A-ATACTT
• gnomAD v4: 11-22273089-A-ATACTT
• MyVariant Identifiers: chr11:g.22294635_22294636insTACTT (hg19) ; chr11:g.22273089_22273090insTACTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22273092_22273096dup , CM000673.2:g.22273092_22273096dup	GRCh38
NC_000011.9:g.22294638_22294642dup , CM000673.1:g.22294638_22294642dup	GRCh37
NC_000011.8:g.22251214_22251218dup	NCBI36
NG_015844.1:g.84917_84921dup , LRG_868:g.84917_84921dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.252+103_252+107dup
ENST00000682266.1:c.1785+103_1785+107dup	ENSP00000507766.1:n.1785+103_1785+107dup
ENST00000682341.1:c.2193+103_2193+107dup	ENSP00000508251.1:n.2193+103_2193+107dup
ENST00000683197.1:c.2193+103_2193+107dup	ENSP00000507641.1:n.2193+103_2193+107dup
ENST00000683411.1:c.1785+103_1785+107dup	ENSP00000508397.1:n.1785+103_1785+107dup
ENST00000683437.1:c.1785+103_1785+107dup	ENSP00000508408.1:n.1785+103_1785+107dup
ENST00000683613.1:n.3229+103_3229+107dup
ENST00000684663.1:c.2190+103_2190+107dup	ENSP00000508009.1:n.2190+103_2190+107dup
ENST00000324559.9:c.2235+103_2235+107dup MANE Select	ENSP00000315371.9:n.2235+103_2235+107dup
ENST00000648804.1:n.2570+103_2570+107dup
ENST00000324559.8:c.2235+103_2235+107dup	ENSP00000315371.8:n.2235+103_2235+107dup
ENST00000532043.1:n.252+103_252+107dup
NM_001142649.1:c.2232+103_2232+107dup	NP_001136121.1:n.2232+103_2232+107dup
NM_213599.2:c.2235+103_2235+107dup , LRG_868t1:c.2235+103_2235+107dup	NP_998764.1:n.2235+103_2235+107dup
XM_005252820.2:c.2193+103_2193+107dup	XP_005252877.2:n.2193+103_2193+107dup
XM_005252821.2:c.2190+103_2190+107dup	XP_005252878.2:n.2190+103_2190+107dup
XM_005252822.3:c.2157+103_2157+107dup	XP_005252879.1:n.2157+103_2157+107dup
XM_005252823.3:c.2154+103_2154+107dup	XP_005252880.1:n.2154+103_2154+107dup
XM_011519949.1:c.2142+103_2142+107dup	XP_011518251.1:n.2142+103_2142+107dup
XM_005252820.3:c.2193+103_2193+107dup	XP_005252877.2:n.2193+103_2193+107dup
XM_005252821.3:c.2190+103_2190+107dup	XP_005252878.2:n.2190+103_2190+107dup
XM_005252822.4:c.2157+103_2157+107dup	XP_005252879.1:n.2157+103_2157+107dup
XM_011519949.2:c.2142+103_2142+107dup	XP_011518251.1:n.2142+103_2142+107dup
NM_001142649.2:c.2232+103_2232+107dup	NP_001136121.1:n.2232+103_2232+107dup
NM_213599.3:c.2235+103_2235+107dup MANE Select	NP_998764.1:n.2235+103_2235+107dup