Canonical Allele Identifier: CA2807154332

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894739_56894740insAAACACA , CM000678.2:g.56894739_56894740insAAACACA	GRCh38
NC_000016.9:g.56928651_56928652insAAACACA , CM000678.1:g.56928651_56928652insAAACACA	GRCh37
NC_000016.8:g.55486152_55486153insAAACACA	NCBI36
NG_009386.1:g.34533_34534insAAACACA
NG_009386.2:g.34533_34534insAAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2633+97_2633+98insAAACACA MANE Select	ENSP00000456149.2:n.2633+97_2633+98insAAACACA
ENST00000262502.5:c.2630+97_2630+98insAAACACA	ENSP00000262502.5:n.2630+97_2630+98insAAACACA
ENST00000438926.6:c.2660+97_2660+98insAAACACA	ENSP00000402152.2:n.2660+97_2660+98insAAACACA
ENST00000563236.5:c.2633+97_2633+98insAAACACA	ENSP00000456149.1:n.2633+97_2633+98insAAACACA
ENST00000566786.5:c.2657+97_2657+98insAAACACA	ENSP00000457552.1:n.2657+97_2657+98insAAACACA
NM_000339.2:c.2660+97_2660+98insAAACACA	NP_000330.2:n.2660+97_2660+98insAAACACA
NM_001126107.1:c.2657+97_2657+98insAAACACA	NP_001119579.1:n.2657+97_2657+98insAAACACA
NM_001126108.1:c.2633+97_2633+98insAAACACA	NP_001119580.1:n.2633+97_2633+98insAAACACA
XM_005256119.1:c.2630+97_2630+98insAAACACA	XP_005256176.1:n.2630+97_2630+98insAAACACA
XM_005256119.2:c.2630+97_2630+98insAAACACA	XP_005256176.1:n.2630+97_2630+98insAAACACA
NM_000339.3:c.2660+97_2660+98insAAACACA	NP_000330.3:n.2660+97_2660+98insAAACACA
NM_001126107.2:c.2657+97_2657+98insAAACACA	NP_001119579.2:n.2657+97_2657+98insAAACACA
NM_001126108.2:c.2633+97_2633+98insAAACACA MANE Select	NP_001119580.2:n.2633+97_2633+98insAAACACA