Canonical Allele Identifier: CA722004904

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1236161029
• gnomAD v3: 16-56870058-CTCA-C
• gnomAD v4: 16-56870058-CTCA-C
• MyVariant Identifiers: chr16:g.56903971_56903973del (hg19) ; chr16:g.56870059_56870061del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870061_56870063del , CM000678.2:g.56870061_56870063del	GRCh38
NC_000016.9:g.56903973_56903975del , CM000678.1:g.56903973_56903975del	GRCh37
NC_000016.8:g.55461474_55461476del	NCBI36
NG_009386.1:g.9855_9857del
NG_009386.2:g.9855_9857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.602-35_602-33del MANE Select	ENSP00000456149.2:n.602-35_602-33del
ENST00000262502.5:c.599-35_599-33del	ENSP00000262502.5:n.599-35_599-33del
ENST00000438926.6:c.602-35_602-33del	ENSP00000402152.2:n.602-35_602-33del
ENST00000563236.5:c.602-35_602-33del	ENSP00000456149.1:n.602-35_602-33del
ENST00000566786.5:c.599-35_599-33del	ENSP00000457552.1:n.599-35_599-33del
NM_000339.2:c.602-35_602-33del	NP_000330.2:n.602-35_602-33del
NM_001126107.1:c.599-35_599-33del	NP_001119579.1:n.599-35_599-33del
NM_001126108.1:c.602-35_602-33del	NP_001119580.1:n.602-35_602-33del
XM_005256119.1:c.599-35_599-33del	XP_005256176.1:n.599-35_599-33del
XM_005256119.2:c.599-35_599-33del	XP_005256176.1:n.599-35_599-33del
NM_000339.3:c.602-35_602-33del	NP_000330.3:n.602-35_602-33del
NM_001126107.2:c.599-35_599-33del	NP_001119579.2:n.599-35_599-33del
NM_001126108.2:c.602-35_602-33del MANE Select	NP_001119580.2:n.602-35_602-33del