Canonical Allele Identifier: CA2633379918

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56904256-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904259_56904260del , CM000678.2:g.56904259_56904260del	GRCh38
NC_000016.9:g.56938171_56938172del , CM000678.1:g.56938171_56938172del	GRCh37
NC_000016.8:g.55495672_55495673del	NCBI36
NG_009386.1:g.44053_44054del
NG_009386.2:g.44053_44054del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2857-136_2857-135del MANE Select	ENSP00000456149.2:n.2857-136_2857-135del
ENST00000262502.5:c.2854-136_2854-135del	ENSP00000262502.5:n.2854-136_2854-135del
ENST00000438926.6:c.2884-136_2884-135del	ENSP00000402152.2:n.2884-136_2884-135del
ENST00000563236.5:c.2857-136_2857-135del	ENSP00000456149.1:n.2857-136_2857-135del
ENST00000566786.5:c.2881-136_2881-135del	ENSP00000457552.1:n.2881-136_2881-135del
ENST00000569002.1:n.288-136_288-135del
NM_000339.2:c.2884-136_2884-135del	NP_000330.2:n.2884-136_2884-135del
NM_001126107.1:c.2881-136_2881-135del	NP_001119579.1:n.2881-136_2881-135del
NM_001126108.1:c.2857-136_2857-135del	NP_001119580.1:n.2857-136_2857-135del
XM_005256119.1:c.2854-136_2854-135del	XP_005256176.1:n.2854-136_2854-135del
XM_005256119.2:c.2854-136_2854-135del	XP_005256176.1:n.2854-136_2854-135del
NM_000339.3:c.2884-136_2884-135del	NP_000330.3:n.2884-136_2884-135del
NM_001126107.2:c.2881-136_2881-135del	NP_001119579.2:n.2881-136_2881-135del
NM_001126108.2:c.2857-136_2857-135del MANE Select	NP_001119580.2:n.2857-136_2857-135del