Canonical Allele Identifier: CA598389496

Gene: ANO5

Linked Data

• dbSNP Id: rs1303726138
• gnomAD v2: 11-22294783-G-GCAGA
• gnomAD v3: 11-22273237-G-GCAGA
• gnomAD v4: 11-22273237-G-GCAGA
• MyVariant Identifiers: chr11:g.22294783_22294784insCAGA (hg19) ; chr11:g.22273237_22273238insCAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22273242_22273245dup , CM000673.2:g.22273242_22273245dup	GRCh38
NC_000011.9:g.22294788_22294791dup , CM000673.1:g.22294788_22294791dup	GRCh37
NC_000011.8:g.22251364_22251367dup	NCBI36
NG_015844.1:g.85067_85070dup , LRG_868:g.85067_85070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.252+253_252+256dup
ENST00000682266.1:c.1785+253_1785+256dup	ENSP00000507766.1:n.1785+253_1785+256dup
ENST00000682341.1:c.2193+253_2193+256dup	ENSP00000508251.1:n.2193+253_2193+256dup
ENST00000683197.1:c.2193+253_2193+256dup	ENSP00000507641.1:n.2193+253_2193+256dup
ENST00000683411.1:c.1785+253_1785+256dup	ENSP00000508397.1:n.1785+253_1785+256dup
ENST00000683437.1:c.1785+253_1785+256dup	ENSP00000508408.1:n.1785+253_1785+256dup
ENST00000683613.1:n.3229+253_3229+256dup
ENST00000684663.1:c.2190+253_2190+256dup	ENSP00000508009.1:n.2190+253_2190+256dup
ENST00000324559.9:c.2235+253_2235+256dup MANE Select	ENSP00000315371.9:n.2235+253_2235+256dup
ENST00000648804.1:n.2570+253_2570+256dup
ENST00000324559.8:c.2235+253_2235+256dup	ENSP00000315371.8:n.2235+253_2235+256dup
ENST00000532043.1:n.252+253_252+256dup
NM_001142649.1:c.2232+253_2232+256dup	NP_001136121.1:n.2232+253_2232+256dup
NM_213599.2:c.2235+253_2235+256dup , LRG_868t1:c.2235+253_2235+256dup	NP_998764.1:n.2235+253_2235+256dup
XM_005252820.2:c.2193+253_2193+256dup	XP_005252877.2:n.2193+253_2193+256dup
XM_005252821.2:c.2190+253_2190+256dup	XP_005252878.2:n.2190+253_2190+256dup
XM_005252822.3:c.2157+253_2157+256dup	XP_005252879.1:n.2157+253_2157+256dup
XM_005252823.3:c.2154+253_2154+256dup	XP_005252880.1:n.2154+253_2154+256dup
XM_011519949.1:c.2142+253_2142+256dup	XP_011518251.1:n.2142+253_2142+256dup
XM_005252820.3:c.2193+253_2193+256dup	XP_005252877.2:n.2193+253_2193+256dup
XM_005252821.3:c.2190+253_2190+256dup	XP_005252878.2:n.2190+253_2190+256dup
XM_005252822.4:c.2157+253_2157+256dup	XP_005252879.1:n.2157+253_2157+256dup
XM_011519949.2:c.2142+253_2142+256dup	XP_011518251.1:n.2142+253_2142+256dup
NM_001142649.2:c.2232+253_2232+256dup	NP_001136121.1:n.2232+253_2232+256dup
NM_213599.3:c.2235+253_2235+256dup MANE Select	NP_998764.1:n.2235+253_2235+256dup