Canonical Allele Identifier: CA2503498157

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056275_46056276insAG , CM000682.2:g.46056275_46056276insAG	GRCh38
NC_000020.10:g.44684914_44684915insAG , CM000682.1:g.44684914_44684915insAG	GRCh37
NC_000020.9:g.44118321_44118322insAG	NCBI36
NG_046341.1:g.39586_39587insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2910+3_2910+4insAG MANE Select	ENSP00000243964.4:n.2910+3_2910+4insAG
ENST00000243964.6:c.2910+3_2910+4insAG	ENSP00000243964.3:n.2910+3_2910+4insAG
ENST00000454036.6:c.2979+3_2979+4insAG	ENSP00000387694.1:n.2979+3_2979+4insAG
ENST00000616201.4:c.1298-2381_1298-2380insAG	ENSP00000484585.1:n.1298-2381_1298-2380insAG
ENST00000616202.4:c.613-2206_613-2205insAG	ENSP00000478369.1:n.613-2206_613-2205insAG
ENST00000616933.4:c.*2228+3_*2228+4insAG	ENSP00000477569.1:n.*2228+3_*2228+4insAG
ENST00000626937.2:c.510-3324_510-3323insAG	ENSP00000485953.1:n.510-3324_510-3323insAG
ENST00000628413.1:n.426+3_426+4insAG
NM_001134771.1:c.2979+3_2979+4insAG	NP_001128243.1:n.2979+3_2979+4insAG
NM_020708.4:c.2910+3_2910+4insAG	NP_065759.1:n.2910+3_2910+4insAG
XM_017027981.1:c.2979+3_2979+4insAG	XP_016883470.1:n.2979+3_2979+4insAG
NM_001134771.2:c.2979+3_2979+4insAG	NP_001128243.1:n.2979+3_2979+4insAG
NM_020708.5:c.2910+3_2910+4insAG MANE Select	NP_065759.1:n.2910+3_2910+4insAG