Canonical Allele Identifier: CA2633370394

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56869832-ATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869838_56869900del , CM000678.2:g.56869838_56869900del	GRCh38
NC_000016.9:g.56903750_56903812del , CM000678.1:g.56903750_56903812del	GRCh37
NC_000016.8:g.55461251_55461313del	NCBI36
NG_009386.1:g.9632_9694del
NG_009386.2:g.9632_9694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.601+14_601+76del MANE Select	ENSP00000456149.2:n.601+14_601+76del
ENST00000262502.5:c.598+14_598+76del	ENSP00000262502.5:n.598+14_598+76del
ENST00000438926.6:c.601+14_601+76del	ENSP00000402152.2:n.601+14_601+76del
ENST00000563236.5:c.601+14_601+76del	ENSP00000456149.1:n.601+14_601+76del
ENST00000566786.5:c.598+14_598+76del	ENSP00000457552.1:n.598+14_598+76del
NM_000339.2:c.601+14_601+76del	NP_000330.2:n.601+14_601+76del
NM_001126107.1:c.598+14_598+76del	NP_001119579.1:n.598+14_598+76del
NM_001126108.1:c.601+14_601+76del	NP_001119580.1:n.601+14_601+76del
XM_005256119.1:c.598+14_598+76del	XP_005256176.1:n.598+14_598+76del
XM_005256119.2:c.598+14_598+76del	XP_005256176.1:n.598+14_598+76del
NM_000339.3:c.601+14_601+76del	NP_000330.3:n.601+14_601+76del
NM_001126107.2:c.598+14_598+76del	NP_001119579.2:n.598+14_598+76del
NM_001126108.2:c.601+14_601+76del MANE Select	NP_001119580.2:n.601+14_601+76del