Canonical Allele Identifier: CA977648822

Gene: SLC12A3

Linked Data

• gnomAD v3: 16-56887798-A-ATATTTTTTTTTT
• gnomAD v4: 16-56887798-A-ATATTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887799_56887800insATTTTTTTTTTT , CM000678.2:g.56887799_56887800insATTTTTTTTTTT	GRCh38
NC_000016.9:g.56921711_56921712insATTTTTTTTTTT , CM000678.1:g.56921711_56921712insATTTTTTTTTTT	GRCh37
NC_000016.8:g.55479212_55479213insATTTTTTTTTTT	NCBI36
NG_009386.1:g.27593_27594insATTTTTTTTTTT
NG_009386.2:g.27593_27594insATTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2179-126_2179-125insATTTTTTTTTTT MANE Select	ENSP00000456149.2:n.2179-126_2179-125insATTTTTTTTTTT
ENST00000262502.5:c.2176-126_2176-125insATTTTTTTTTTT	ENSP00000262502.5:n.2176-126_2176-125insATTTTTTTTTTT
ENST00000438926.6:c.2179-126_2179-125insATTTTTTTTTTT	ENSP00000402152.2:n.2179-126_2179-125insATTTTTTTTTTT
ENST00000563236.5:c.2179-126_2179-125insATTTTTTTTTTT	ENSP00000456149.1:n.2179-126_2179-125insATTTTTTTTTTT
ENST00000566786.5:c.2176-126_2176-125insATTTTTTTTTTT	ENSP00000457552.1:n.2176-126_2176-125insATTTTTTTTTTT
NM_000339.2:c.2179-126_2179-125insATTTTTTTTTTT	NP_000330.2:n.2179-126_2179-125insATTTTTTTTTTT
NM_001126107.1:c.2176-126_2176-125insATTTTTTTTTTT	NP_001119579.1:n.2176-126_2176-125insATTTTTTTTTTT
NM_001126108.1:c.2179-126_2179-125insATTTTTTTTTTT	NP_001119580.1:n.2179-126_2179-125insATTTTTTTTTTT
XM_005256119.1:c.2176-126_2176-125insATTTTTTTTTTT	XP_005256176.1:n.2176-126_2176-125insATTTTTTTTTTT
XM_005256119.2:c.2176-126_2176-125insATTTTTTTTTTT	XP_005256176.1:n.2176-126_2176-125insATTTTTTTTTTT
NM_000339.3:c.2179-126_2179-125insATTTTTTTTTTT	NP_000330.3:n.2179-126_2179-125insATTTTTTTTTTT
NM_001126107.2:c.2176-126_2176-125insATTTTTTTTTTT	NP_001119579.2:n.2176-126_2176-125insATTTTTTTTTTT
NM_001126108.2:c.2179-126_2179-125insATTTTTTTTTTT MANE Select	NP_001119580.2:n.2179-126_2179-125insATTTTTTTTTTT