Canonical Allele Identifier: CA1957413246

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250353_22250354delinsTG , CM000673.2:g.22250353_22250354delinsTG	GRCh38
NC_000011.9:g.22271899_22271900delinsTG , CM000673.1:g.22271899_22271900delinsTG	GRCh37
NC_000011.8:g.22228475_22228476delinsTG	NCBI36
NG_015844.1:g.62178_62179delinsTG , LRG_868:g.62178_62179delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.315_316delinsTG
ENST00000682266.1:c.545_546delinsTG	ENSP00000507766.1:p.Met182=
ENST00000682341.1:c.953_954delinsTG	ENSP00000508251.1:p.Met318=
ENST00000682530.1:c.*927_*928delinsTG	ENSP00000506805.1:n.*927_*928delinsTG
ENST00000683197.1:c.953_954delinsTG	ENSP00000507641.1:p.Met318=
ENST00000683411.1:c.545_546delinsTG	ENSP00000508397.1:p.Met182=
ENST00000683437.1:c.545_546delinsTG	ENSP00000508408.1:p.Met182=
ENST00000683613.1:n.1989_1990delinsTG
ENST00000683834.1:n.1195_1196delinsTG
ENST00000684663.1:c.950_951delinsTG	ENSP00000508009.1:p.Met317=
ENST00000324559.9:c.995_996delinsTG MANE Select	ENSP00000315371.9:p.Met332=
ENST00000648804.1:n.1330_1331delinsTG
ENST00000324559.8:c.995_996delinsTG	ENSP00000315371.8:p.Met332=
NM_001142649.1:c.992_993delinsTG	NP_001136121.1:p.Met331=
NM_213599.2:c.995_996delinsTG , LRG_868t1:c.995_996delinsTG	NP_998764.1:p.Met332=
XM_005252820.2:c.953_954delinsTG	XP_005252877.2:p.Met318=
XM_005252821.2:c.950_951delinsTG	XP_005252878.2:p.Met317=
XM_005252822.3:c.917_918delinsTG	XP_005252879.1:p.Met306=
XM_005252823.3:c.914_915delinsTG	XP_005252880.1:p.Met305=
XM_011519949.1:c.902_903delinsTG	XP_011518251.1:p.Met301=
XM_005252820.3:c.953_954delinsTG	XP_005252877.2:p.Met318=
XM_005252821.3:c.950_951delinsTG	XP_005252878.2:p.Met317=
XM_005252822.4:c.917_918delinsTG	XP_005252879.1:p.Met306=
XM_011519949.2:c.902_903delinsTG	XP_011518251.1:p.Met301=
NM_001142649.2:c.992_993delinsTG	NP_001136121.1:p.Met331=
NM_213599.3:c.995_996delinsTG MANE Select	NP_998764.1:p.Met332=