Canonical Allele Identifier: CA917223308

Gene: SLC4A4

Linked Data

• dbSNP Id: rs1560520073
• gnomAD v4: 4-71451254-CGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71451264_71451266del , CM000666.2:g.71451264_71451266del	GRCh38
NC_000004.11:g.72316981_72316983del , CM000666.1:g.72316981_72316983del	GRCh37
NC_000004.10:g.72535845_72535847del	NCBI36
NG_012653.1:g.268979_268981del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698522.1:c.1381_1383del	ENSP00000513771.1:p.Gly461del
ENST00000264485.11:c.1285_1287del MANE Select	ENSP00000264485.5:p.Gly429del
ENST00000340595.4:c.1153_1155del MANE Plus Clinical	ENSP00000344272.3:p.Gly385del
ENST00000649996.1:c.1285_1287del	ENSP00000497468.1:p.Gly429del
ENST00000264485.9:c.1285_1287del	ENSP00000264485.5:p.Gly429del
ENST00000340595.3:c.1153_1155del	ENSP00000344272.3:p.Gly385del
ENST00000351898.10:c.1285_1287del	ENSP00000307349.7:p.Gly429del
ENST00000425175.5:c.1285_1287del	ENSP00000393557.1:p.Gly429del
ENST00000512686.5:c.1153_1155del	ENSP00000422400.1:p.Gly385del
ENST00000514331.1:n.1214_1216del
NM_001098484.2:c.1285_1287del	NP_001091954.1:p.Gly429del
NM_001134742.1:c.1285_1287del	NP_001128214.1:p.Gly429del
NM_003759.3:c.1153_1155del	NP_003750.1:p.Gly385del
XM_011532390.1:c.727_729del	XP_011530692.1:p.Gly243del
XM_011532390.2:c.727_729del	XP_011530692.1:p.Gly243del
XM_017008792.1:c.1060_1062del	XP_016864281.1:p.Gly354del
XM_017008793.1:c.769_771del	XP_016864282.1:p.Gly257del
XM_024454267.1:c.1378_1380del	XP_024310035.1:p.Gly460del
XM_024454268.1:c.1300_1302del	XP_024310036.1:p.Gly434del
XM_024454269.1:c.1300_1302del	XP_024310037.1:p.Gly434del
XM_024454270.1:c.1285_1287del	XP_024310038.1:p.Gly429del
XM_024454271.1:c.1285_1287del	XP_024310039.1:p.Gly429del
XM_024454272.1:c.1285_1287del	XP_024310040.1:p.Gly429del
NM_001098484.3:c.1285_1287del MANE Select	NP_001091954.1:p.Gly429del
NM_001134742.2:c.1285_1287del	NP_001128214.1:p.Gly429del
NM_003759.4:c.1153_1155del MANE Plus Clinical	NP_003750.1:p.Gly385del