Canonical Allele Identifier: CA598389493

Gene: ANO5

Linked Data

• dbSNP Id: rs1185539212
• gnomAD v2: 11-22294691-AC-A
• MyVariant Identifiers: chr11:g.22294692del (hg19) ; chr11:g.22273146del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22273147del , CM000673.2:g.22273147del	GRCh38
NC_000011.9:g.22294693del , CM000673.1:g.22294693del	GRCh37
NC_000011.8:g.22251269del	NCBI36
NG_015844.1:g.84972del , LRG_868:g.84972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.252+158del
ENST00000682266.1:c.1785+158del	ENSP00000507766.1:n.1785+158del
ENST00000682341.1:c.2193+158del	ENSP00000508251.1:n.2193+158del
ENST00000683197.1:c.2193+158del	ENSP00000507641.1:n.2193+158del
ENST00000683411.1:c.1785+158del	ENSP00000508397.1:n.1785+158del
ENST00000683437.1:c.1785+158del	ENSP00000508408.1:n.1785+158del
ENST00000683613.1:n.3229+158del
ENST00000684663.1:c.2190+158del	ENSP00000508009.1:n.2190+158del
ENST00000324559.9:c.2235+158del MANE Select	ENSP00000315371.9:n.2235+158del
ENST00000648804.1:n.2570+158del
ENST00000324559.8:c.2235+158del	ENSP00000315371.8:n.2235+158del
ENST00000532043.1:n.252+158del
NM_001142649.1:c.2232+158del	NP_001136121.1:n.2232+158del
NM_213599.2:c.2235+158del , LRG_868t1:c.2235+158del	NP_998764.1:n.2235+158del
XM_005252820.2:c.2193+158del	XP_005252877.2:n.2193+158del
XM_005252821.2:c.2190+158del	XP_005252878.2:n.2190+158del
XM_005252822.3:c.2157+158del	XP_005252879.1:n.2157+158del
XM_005252823.3:c.2154+158del	XP_005252880.1:n.2154+158del
XM_011519949.1:c.2142+158del	XP_011518251.1:n.2142+158del
XM_005252820.3:c.2193+158del	XP_005252877.2:n.2193+158del
XM_005252821.3:c.2190+158del	XP_005252878.2:n.2190+158del
XM_005252822.4:c.2157+158del	XP_005252879.1:n.2157+158del
XM_011519949.2:c.2142+158del	XP_011518251.1:n.2142+158del
NM_001142649.2:c.2232+158del	NP_001136121.1:n.2232+158del
NM_213599.3:c.2235+158del MANE Select	NP_998764.1:n.2235+158del