Canonical Allele Identifier: CA2681065341

Gene: SLC22A1

Linked Data

• gnomAD v4: 6-160139870-AAGTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139871_160139875del , CM000668.2:g.160139871_160139875del	GRCh38
NC_000006.11:g.160560903_160560907del , CM000668.1:g.160560903_160560907del	GRCh37
NC_000006.10:g.160480893_160480897del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1276+4_1276+8del MANE Select	ENSP00000355930.4:n.1276+4_1276+8del
ENST00000324965.8:c.1276+4_1276+8del	ENSP00000318103.4:n.1276+4_1276+8del
ENST00000366963.8:c.1276+4_1276+8del	ENSP00000355930.4:n.1276+4_1276+8del
ENST00000457470.6:c.1276+4_1276+8del	ENSP00000409557.2:n.1276+4_1276+8del
ENST00000460902.2:c.1061+3221_1061+3225del	ENSP00000439274.1:n.1061+3221_1061+3225del
ENST00000539263.5:c.*749+4_*749+8del	ENSP00000443245.1:n.*749+4_*749+8del
NM_003057.2:c.1276+4_1276+8del	NP_003048.1:n.1276+4_1276+8del
NM_153187.1:c.1276+4_1276+8del	NP_694857.1:n.1276+4_1276+8del
XM_005267102.3:c.1276+4_1276+8del	XP_005267159.1:n.1276+4_1276+8del
XM_005267103.1:c.1276+4_1276+8del	XP_005267160.1:n.1276+4_1276+8del
XM_005267104.3:c.700+4_700+8del	XP_005267161.1:n.700+4_700+8del
XM_005267105.3:c.700+4_700+8del	XP_005267162.1:n.700+4_700+8del
XM_006715552.1:c.1276+4_1276+8del	XP_006715615.1:n.1276+4_1276+8del
XM_011536074.1:c.700+4_700+8del	XP_011534376.1:n.700+4_700+8del
XM_005267102.5:c.1276+4_1276+8del	XP_005267159.1:n.1276+4_1276+8del
XM_005267103.2:c.1276+4_1276+8del	XP_005267160.1:n.1276+4_1276+8del
XM_005267104.5:c.700+4_700+8del	XP_005267161.1:n.700+4_700+8del
XM_005267105.5:c.700+4_700+8del	XP_005267162.1:n.700+4_700+8del
XM_006715552.2:c.1276+4_1276+8del	XP_006715615.1:n.1276+4_1276+8del
XM_011536074.3:c.700+4_700+8del	XP_011534376.1:n.700+4_700+8del
NM_003057.3:c.1276+4_1276+8del MANE Select	NP_003048.1:n.1276+4_1276+8del
NM_153187.2:c.1276+4_1276+8del	NP_694857.1:n.1276+4_1276+8del