Canonical Allele Identifier: CA2674746417

Gene: SLCO6A1

Linked Data

• gnomAD v4: 5-102390886-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390887_102390888del , CM000667.2:g.102390887_102390888del	GRCh38
NC_000005.9:g.101726591_101726592del , CM000667.1:g.101726591_101726592del	GRCh37
NC_000005.8:g.101754490_101754491del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1879+93_1879+94del MANE Select	ENSP00000421339.1:n.1879+93_1879+94del
ENST00000379807.7:c.1879+93_1879+94del	ENSP00000369135.3:n.1879+93_1879+94del
ENST00000389019.7:c.1693+93_1693+94del	ENSP00000373671.3:n.1693+93_1693+94del
ENST00000506729.5:c.1879+93_1879+94del	ENSP00000421339.1:n.1879+93_1879+94del
ENST00000513675.1:c.1120+93_1120+94del	ENSP00000421990.1:n.1120+93_1120+94del
ENST00000514765.6:n.249+93_249+94del
NM_001289002.1:c.1879+93_1879+94del	NP_001275931.1:n.1879+93_1879+94del
NM_001289004.1:c.1693+93_1693+94del	NP_001275933.1:n.1693+93_1693+94del
NM_001308014.1:c.1120+93_1120+94del	NP_001294943.1:n.1120+93_1120+94del
NM_173488.4:c.1879+93_1879+94del	NP_775759.3:n.1879+93_1879+94del
XM_005271874.2:c.1879+93_1879+94del	XP_005271931.1:n.1879+93_1879+94del
XM_011543147.1:c.1774+93_1774+94del	XP_011541449.1:n.1774+93_1774+94del
XM_011543148.1:c.1642+93_1642+94del	XP_011541450.1:n.1642+93_1642+94del
XM_011543149.1:c.1306+93_1306+94del	XP_011541451.1:n.1306+93_1306+94del
XM_011543150.1:c.1150+93_1150+94del	XP_011541452.1:n.1150+93_1150+94del
XM_011543151.1:c.1120+93_1120+94del	XP_011541453.1:n.1120+93_1120+94del
XM_011543153.1:c.1057+93_1057+94del	XP_011541455.1:n.1057+93_1057+94del
XM_005271874.3:c.1879+93_1879+94del	XP_005271931.1:n.1879+93_1879+94del
XM_011543147.2:c.1774+93_1774+94del	XP_011541449.1:n.1774+93_1774+94del
XM_011543148.2:c.1642+93_1642+94del	XP_011541450.1:n.1642+93_1642+94del
XM_011543153.2:c.1057+93_1057+94del	XP_011541455.1:n.1057+93_1057+94del
NM_001289002.2:c.1879+93_1879+94del	NP_001275931.1:n.1879+93_1879+94del
NM_001289004.2:c.1693+93_1693+94del	NP_001275933.1:n.1693+93_1693+94del
NM_001308014.2:c.1120+93_1120+94del	NP_001294943.1:n.1120+93_1120+94del
NM_173488.5:c.1879+93_1879+94del MANE Select	NP_775759.3:n.1879+93_1879+94del