Canonical Allele Identifier: CA935871469

Gene: ANO5

Linked Data

• dbSNP Id: rs1854692749
• gnomAD v3: 11-22273205-TATC-T
• gnomAD v4: 11-22273205-TATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22273208_22273210del , CM000673.2:g.22273208_22273210del	GRCh38
NC_000011.9:g.22294754_22294756del , CM000673.1:g.22294754_22294756del	GRCh37
NC_000011.8:g.22251330_22251332del	NCBI36
NG_015844.1:g.85033_85035del , LRG_868:g.85033_85035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.252+219_252+221del
ENST00000682266.1:c.1785+219_1785+221del	ENSP00000507766.1:n.1785+219_1785+221del
ENST00000682341.1:c.2193+219_2193+221del	ENSP00000508251.1:n.2193+219_2193+221del
ENST00000683197.1:c.2193+219_2193+221del	ENSP00000507641.1:n.2193+219_2193+221del
ENST00000683411.1:c.1785+219_1785+221del	ENSP00000508397.1:n.1785+219_1785+221del
ENST00000683437.1:c.1785+219_1785+221del	ENSP00000508408.1:n.1785+219_1785+221del
ENST00000683613.1:n.3229+219_3229+221del
ENST00000684663.1:c.2190+219_2190+221del	ENSP00000508009.1:n.2190+219_2190+221del
ENST00000324559.9:c.2235+219_2235+221del MANE Select	ENSP00000315371.9:n.2235+219_2235+221del
ENST00000648804.1:n.2570+219_2570+221del
ENST00000324559.8:c.2235+219_2235+221del	ENSP00000315371.8:n.2235+219_2235+221del
ENST00000532043.1:n.252+219_252+221del
NM_001142649.1:c.2232+219_2232+221del	NP_001136121.1:n.2232+219_2232+221del
NM_213599.2:c.2235+219_2235+221del , LRG_868t1:c.2235+219_2235+221del	NP_998764.1:n.2235+219_2235+221del
XM_005252820.2:c.2193+219_2193+221del	XP_005252877.2:n.2193+219_2193+221del
XM_005252821.2:c.2190+219_2190+221del	XP_005252878.2:n.2190+219_2190+221del
XM_005252822.3:c.2157+219_2157+221del	XP_005252879.1:n.2157+219_2157+221del
XM_005252823.3:c.2154+219_2154+221del	XP_005252880.1:n.2154+219_2154+221del
XM_011519949.1:c.2142+219_2142+221del	XP_011518251.1:n.2142+219_2142+221del
XM_005252820.3:c.2193+219_2193+221del	XP_005252877.2:n.2193+219_2193+221del
XM_005252821.3:c.2190+219_2190+221del	XP_005252878.2:n.2190+219_2190+221del
XM_005252822.4:c.2157+219_2157+221del	XP_005252879.1:n.2157+219_2157+221del
XM_011519949.2:c.2142+219_2142+221del	XP_011518251.1:n.2142+219_2142+221del
NM_001142649.2:c.2232+219_2232+221del	NP_001136121.1:n.2232+219_2232+221del
NM_213599.3:c.2235+219_2235+221del MANE Select	NP_998764.1:n.2235+219_2235+221del