Canonical Allele Identifier: CA2224365904

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904778_56904800delinsTCTTTCAAGAGGGACATCAACTC , CM000678.2:g.56904778_56904800delinsTCTTTCAAGAGGGACATCAACTC	GRCh38
NC_000016.9:g.56938690_56938712delinsTCTTTCAAGAGGGACATCAACTC , CM000678.1:g.56938690_56938712delinsTCTTTCAAGAGGGACATCAACTC	GRCh37
NC_000016.8:g.55496191_55496213delinsTCTTTCAAGAGGGACATCAACTC	NCBI36
NG_009386.1:g.44572_44594delinsTCTTTCAAGAGGGACATCAACTC
NG_009386.2:g.44572_44594delinsTCTTTCAAGAGGGACATCAACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2924+316_2924+338delinsTCTTTCAAGAGGGACATCAACTC MANE Select	ENSP00000456149.2:n.2924+316_2924+338delinsTCTTTCAAGAGGGACATC...
ENST00000262502.5:c.2921+316_2921+338delinsTCTTTCAAGAGGGACATCAACTC	ENSP00000262502.5:n.2921+316_2921+338delinsTCTTTCAAGAGGGACATC...
ENST00000438926.6:c.2951+316_2951+338delinsTCTTTCAAGAGGGACATCAACTC	ENSP00000402152.2:n.2951+316_2951+338delinsTCTTTCAAGAGGGACATC...
ENST00000563236.5:c.2924+316_2924+338delinsTCTTTCAAGAGGGACATCAACTC	ENSP00000456149.1:n.2924+316_2924+338delinsTCTTTCAAGAGGGACATC...
ENST00000566786.5:c.2948+316_2948+338delinsTCTTTCAAGAGGGACATCAACTC	ENSP00000457552.1:n.2948+316_2948+338delinsTCTTTCAAGAGGGACATC...
ENST00000569002.1:n.671_693delinsTCTTTCAAGAGGGACATCAACTC
NM_000339.2:c.2951+316_2951+338delinsTCTTTCAAGAGGGACATCAACTC	NP_000330.2:n.2951+316_2951+338delinsTCTTTCAAGAGGGACATCAACTC
NM_001126107.1:c.2948+316_2948+338delinsTCTTTCAAGAGGGACATCAACTC	NP_001119579.1:n.2948+316_2948+338delinsTCTTTCAAGAGGGACATCAAC...
NM_001126108.1:c.2924+316_2924+338delinsTCTTTCAAGAGGGACATCAACTC	NP_001119580.1:n.2924+316_2924+338delinsTCTTTCAAGAGGGACATCAAC...
XM_005256119.1:c.2921+316_2921+338delinsTCTTTCAAGAGGGACATCAACTC	XP_005256176.1:n.2921+316_2921+338delinsTCTTTCAAGAGGGACATCAAC...
XM_005256119.2:c.2921+316_2921+338delinsTCTTTCAAGAGGGACATCAACTC	XP_005256176.1:n.2921+316_2921+338delinsTCTTTCAAGAGGGACATCAAC...
NM_000339.3:c.2951+316_2951+338delinsTCTTTCAAGAGGGACATCAACTC	NP_000330.3:n.2951+316_2951+338delinsTCTTTCAAGAGGGACATCAACTC
NM_001126107.2:c.2948+316_2948+338delinsTCTTTCAAGAGGGACATCAACTC	NP_001119579.2:n.2948+316_2948+338delinsTCTTTCAAGAGGGACATCAAC...
NM_001126108.2:c.2924+316_2924+338delinsTCTTTCAAGAGGGACATCAACTC MANE Select	NP_001119580.2:n.2924+316_2924+338delinsTCTTTCAAGAGGGACATCAAC...