Canonical Allele Identifier: CA2675943693

Gene: SLC26A2

Linked Data

• gnomAD v4: 5-149981875-CCCAGTTCCACAGTGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981876_149981891del , CM000667.2:g.149981876_149981891del	GRCh38
NC_000005.9:g.149361439_149361454del , CM000667.1:g.149361439_149361454del	GRCh37
NC_000005.8:g.149341632_149341647del	NCBI36
NG_007147.2:g.22994_23009del , LRG_684:g.22994_23009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.*63_*78del MANE Select	ENSP00000286298.4:n.*63_*78del
ENST00000286298.4:c.*63_*78del	ENSP00000286298.4:n.*63_*78del
ENST00000503336.1:c.372+3525_372+3540del	ENSP00000426053.1:n.372+3525_372+3540del
NM_000112.3:c.*63_*78del , LRG_684t1:c.*63_*78del	NP_000103.2:n.*63_*78del
XM_017009191.2:c.*12+51_*13-38del	XP_016864680.1:n.*12+51_*13-38del
NM_000112.4:c.*63_*78del MANE Select	NP_000103.2:n.*63_*78del