Canonical Allele Identifier: CA2633374529

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56894685-TGTCATCTTAGCTCCACCCAAGGCTGTCCCCTACCCTAGATCCTCTACCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894686_56894735del , CM000678.2:g.56894686_56894735del	GRCh38
NC_000016.9:g.56928598_56928647del , CM000678.1:g.56928598_56928647del	GRCh37
NC_000016.8:g.55486099_55486148del	NCBI36
NG_009386.1:g.34480_34529del
NG_009386.2:g.34480_34529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2633+44_2633+93del MANE Select	ENSP00000456149.2:n.2633+44_2633+93del
ENST00000262502.5:c.2630+44_2630+93del	ENSP00000262502.5:n.2630+44_2630+93del
ENST00000438926.6:c.2660+44_2660+93del	ENSP00000402152.2:n.2660+44_2660+93del
ENST00000563236.5:c.2633+44_2633+93del	ENSP00000456149.1:n.2633+44_2633+93del
ENST00000566786.5:c.2657+44_2657+93del	ENSP00000457552.1:n.2657+44_2657+93del
NM_000339.2:c.2660+44_2660+93del	NP_000330.2:n.2660+44_2660+93del
NM_001126107.1:c.2657+44_2657+93del	NP_001119579.1:n.2657+44_2657+93del
NM_001126108.1:c.2633+44_2633+93del	NP_001119580.1:n.2633+44_2633+93del
XM_005256119.1:c.2630+44_2630+93del	XP_005256176.1:n.2630+44_2630+93del
XM_005256119.2:c.2630+44_2630+93del	XP_005256176.1:n.2630+44_2630+93del
NM_000339.3:c.2660+44_2660+93del	NP_000330.3:n.2660+44_2660+93del
NM_001126107.2:c.2657+44_2657+93del	NP_001119579.2:n.2657+44_2657+93del
NM_001126108.2:c.2633+44_2633+93del MANE Select	NP_001119580.2:n.2633+44_2633+93del