Canonical Allele Identifier: CA2674746813

Gene: SLCO6A1

Linked Data

• gnomAD v4: 5-102391349-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391349_102391350insCTG , CM000667.2:g.102391349_102391350insCTG	GRCh38
NC_000005.9:g.101727053_101727054insCTG , CM000667.1:g.101727053_101727054insCTG	GRCh37
NC_000005.8:g.101754952_101754953insCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1815-305_1815-304insCAG MANE Select	ENSP00000421339.1:n.1815-305_1815-304insCAG
ENST00000379807.7:c.1815-305_1815-304insCAG	ENSP00000369135.3:n.1815-305_1815-304insCAG
ENST00000389019.7:c.1629-305_1629-304insCAG	ENSP00000373671.3:n.1629-305_1629-304insCAG
ENST00000506729.5:c.1815-305_1815-304insCAG	ENSP00000421339.1:n.1815-305_1815-304insCAG
ENST00000513675.1:c.1056-305_1056-304insCAG	ENSP00000421990.1:n.1056-305_1056-304insCAG
NM_001289002.1:c.1815-305_1815-304insCAG	NP_001275931.1:n.1815-305_1815-304insCAG
NM_001289004.1:c.1629-305_1629-304insCAG	NP_001275933.1:n.1629-305_1629-304insCAG
NM_001308014.1:c.1056-305_1056-304insCAG	NP_001294943.1:n.1056-305_1056-304insCAG
NM_173488.4:c.1815-305_1815-304insCAG	NP_775759.3:n.1815-305_1815-304insCAG
XM_005271874.2:c.1815-305_1815-304insCAG	XP_005271931.1:n.1815-305_1815-304insCAG
XM_011543147.1:c.1710-305_1710-304insCAG	XP_011541449.1:n.1710-305_1710-304insCAG
XM_011543148.1:c.1578-305_1578-304insCAG	XP_011541450.1:n.1578-305_1578-304insCAG
XM_011543149.1:c.1242-305_1242-304insCAG	XP_011541451.1:n.1242-305_1242-304insCAG
XM_011543150.1:c.1086-305_1086-304insCAG	XP_011541452.1:n.1086-305_1086-304insCAG
XM_011543151.1:c.1056-305_1056-304insCAG	XP_011541453.1:n.1056-305_1056-304insCAG
XM_011543153.1:c.993-305_993-304insCAG	XP_011541455.1:n.993-305_993-304insCAG
XM_005271874.3:c.1815-305_1815-304insCAG	XP_005271931.1:n.1815-305_1815-304insCAG
XM_011543147.2:c.1710-305_1710-304insCAG	XP_011541449.1:n.1710-305_1710-304insCAG
XM_011543148.2:c.1578-305_1578-304insCAG	XP_011541450.1:n.1578-305_1578-304insCAG
XM_011543153.2:c.993-305_993-304insCAG	XP_011541455.1:n.993-305_993-304insCAG
NM_001289002.2:c.1815-305_1815-304insCAG	NP_001275931.1:n.1815-305_1815-304insCAG
NM_001289004.2:c.1629-305_1629-304insCAG	NP_001275933.1:n.1629-305_1629-304insCAG
NM_001308014.2:c.1056-305_1056-304insCAG	NP_001294943.1:n.1056-305_1056-304insCAG
NM_173488.5:c.1815-305_1815-304insCAG MANE Select	NP_775759.3:n.1815-305_1815-304insCAG