Canonical Allele Identifier: CA2559912327
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981391_149981393del , CM000667.2:g.149981391_149981393del GRCh38
NC_000005.9:g.149360954_149360956del , CM000667.1:g.149360954_149360956del GRCh37
NC_000005.8:g.149341147_149341149del NCBI36
NG_007147.2:g.22509_22511del , LRG_684:g.22509_22511del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1798_1800del MANE Select ENSP00000286298.4:p.Tyr600del
ENST00000286298.4:c.1798_1800del ENSP00000286298.4:p.Tyr600del
ENST00000503336.1:c.372+3040_372+3042del ENSP00000426053.1:n.372+3040_372+3042del
NM_000112.3:c.1798_1800del , LRG_684t1:c.1798_1800del NP_000103.2:p.Tyr600del
XM_017009191.2:c.1798_1800del XP_016864680.1:p.Tyr600del
NM_000112.4:c.1798_1800del MANE Select NP_000103.2:p.Tyr600del