Canonical Allele Identifier: CA3357934

Gene: SLCO6A1

Linked Data

• dbSNP Id: rs755588313
• ExAC: 5:101726794 AGCACTAAGAAT / A
• gnomAD v2: 5-101726794-AGCACTAAGAAT-A
• gnomAD v4: 5-102391090-AGCACTAAGAAT-A
• MyVariant Identifiers: chr5:g.101726795_101726805del (hg19) ; chr5:g.102391091_102391101del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391092_102391102del , CM000667.2:g.102391092_102391102del	GRCh38
NC_000005.9:g.101726796_101726806del , CM000667.1:g.101726796_101726806del	GRCh37
NC_000005.8:g.101754695_101754705del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1815-56_1815-46del MANE Select	ENSP00000421339.1:n.1815-56_1815-46del
ENST00000379807.7:c.1815-56_1815-46del	ENSP00000369135.3:n.1815-56_1815-46del
ENST00000389019.7:c.1629-56_1629-46del	ENSP00000373671.3:n.1629-56_1629-46del
ENST00000506729.5:c.1815-56_1815-46del	ENSP00000421339.1:n.1815-56_1815-46del
ENST00000513675.1:c.1056-56_1056-46del	ENSP00000421990.1:n.1056-56_1056-46del
ENST00000514765.6:n.129_139del
NM_001289002.1:c.1815-56_1815-46del	NP_001275931.1:n.1815-56_1815-46del
NM_001289004.1:c.1629-56_1629-46del	NP_001275933.1:n.1629-56_1629-46del
NM_001308014.1:c.1056-56_1056-46del	NP_001294943.1:n.1056-56_1056-46del
NM_173488.4:c.1815-56_1815-46del	NP_775759.3:n.1815-56_1815-46del
XM_005271874.2:c.1815-56_1815-46del	XP_005271931.1:n.1815-56_1815-46del
XM_011543147.1:c.1710-56_1710-46del	XP_011541449.1:n.1710-56_1710-46del
XM_011543148.1:c.1578-56_1578-46del	XP_011541450.1:n.1578-56_1578-46del
XM_011543149.1:c.1242-56_1242-46del	XP_011541451.1:n.1242-56_1242-46del
XM_011543150.1:c.1086-56_1086-46del	XP_011541452.1:n.1086-56_1086-46del
XM_011543151.1:c.1056-56_1056-46del	XP_011541453.1:n.1056-56_1056-46del
XM_011543153.1:c.993-56_993-46del	XP_011541455.1:n.993-56_993-46del
XM_005271874.3:c.1815-56_1815-46del	XP_005271931.1:n.1815-56_1815-46del
XM_011543147.2:c.1710-56_1710-46del	XP_011541449.1:n.1710-56_1710-46del
XM_011543148.2:c.1578-56_1578-46del	XP_011541450.1:n.1578-56_1578-46del
XM_011543153.2:c.993-56_993-46del	XP_011541455.1:n.993-56_993-46del
NM_001289002.2:c.1815-56_1815-46del	NP_001275931.1:n.1815-56_1815-46del
NM_001289004.2:c.1629-56_1629-46del	NP_001275933.1:n.1629-56_1629-46del
NM_001308014.2:c.1056-56_1056-46del	NP_001294943.1:n.1056-56_1056-46del
NM_173488.5:c.1815-56_1815-46del MANE Select	NP_775759.3:n.1815-56_1815-46del