Canonical Allele Identifier: CA2548755549

Gene: ADSL

Linked Data

• gnomAD v4: 22-40364767-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364767_40364768insT , CM000684.2:g.40364767_40364768insT	GRCh38
NC_000022.10:g.40760771_40760772insT , CM000684.1:g.40760771_40760772insT	GRCh37
NC_000022.9:g.39090717_39090718insT	NCBI36
NG_007993.1:g.23268_23269insT
NG_007993.2:g.23268_23269insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*586-113_*586-112insT	ENSP00000485462.2:n.*586-113_*586-112insT
ENST00000623287.4:c.*617-113_*617-112insT	ENSP00000485437.1:n.*617-113_*617-112insT
ENST00000623632.4:c.883-113_883-112insT	ENSP00000485288.2:n.883-113_883-112insT
ENST00000625194.4:c.1234-113_1234-112insT	ENSP00000485289.2:n.1234-113_1234-112insT
ENST00000636433.1:n.1214-113_1214-112insT
ENST00000636714.1:c.1192-113_1192-112insT	ENSP00000490946.1:n.1192-113_1192-112insT
ENST00000637666.2:c.1191+402_1191+403insT	ENSP00000489696.2:n.1191+402_1191+403insT
ENST00000637669.1:c.1192-113_1192-112insT	ENSP00000489728.1:n.1192-113_1192-112insT
ENST00000639722.1:c.*888-113_*888-112insT	ENSP00000492828.1:n.*888-113_*888-112insT
ENST00000674592.1:n.2706-113_2706-112insT
ENST00000675622.1:n.4259-113_4259-112insT
ENST00000679609.1:c.*802-113_*802-112insT	ENSP00000506592.1:n.*802-113_*802-112insT
ENST00000679656.1:n.1877-113_1877-112insT
ENST00000679723.1:c.1147-113_1147-112insT	ENSP00000505155.1:n.1147-113_1147-112insT
ENST00000679845.1:n.1500-113_1500-112insT
ENST00000679904.1:n.1588-113_1588-112insT
ENST00000680378.1:c.1279-113_1279-112insT	ENSP00000505556.1:n.1279-113_1279-112insT
ENST00000680444.1:c.*555-113_*555-112insT	ENSP00000505298.1:n.*555-113_*555-112insT
ENST00000680978.1:c.1192-113_1192-112insT	ENSP00000505244.1:n.1192-113_1192-112insT
ENST00000681003.1:n.655-113_655-112insT
ENST00000681159.1:n.2596-113_2596-112insT
ENST00000216194.11:c.1234-113_1234-112insT	ENSP00000216194.8:n.1234-113_1234-112insT
ENST00000342312.9:c.1191+402_1191+403insT	ENSP00000341429.6:n.1191+402_1191+403insT
ENST00000623063.3:c.1192-113_1192-112insT MANE Select	ENSP00000485525.1:n.1192-113_1192-112insT
ENST00000623387.1:n.210_211insT
ENST00000625194.3:c.821-113_821-112insT
NM_000026.2:c.1192-113_1192-112insT	NP_000017.1:n.1192-113_1192-112insT
NM_001123378.1:c.1191+402_1191+403insT	NP_001116850.1:n.1191+402_1191+403insT
XM_011529976.1:c.1192-113_1192-112insT	XP_011528278.1:n.1192-113_1192-112insT
XM_011529977.1:c.1192-113_1192-112insT	XP_011528279.1:n.1192-113_1192-112insT
XM_011529978.1:c.1191+402_1191+403insT	XP_011528280.1:n.1191+402_1191+403insT
XM_011529979.1:c.1192-113_1192-112insT	XP_011528281.1:n.1192-113_1192-112insT
XM_011529980.1:c.1191+402_1191+403insT	XP_011528282.1:n.1191+402_1191+403insT
XM_011529981.1:c.727-113_727-112insT	XP_011528283.1:n.727-113_727-112insT
XM_011529982.1:c.361-113_361-112insT	XP_011528284.1:n.361-113_361-112insT
XR_937824.1:n.1282-113_1282-112insT
XR_937825.1:n.1281+402_1281+403insT
NM_000026.3:c.1192-113_1192-112insT	NP_000017.1:n.1192-113_1192-112insT
NM_001123378.2:c.1191+402_1191+403insT	NP_001116850.1:n.1191+402_1191+403insT
NM_001317923.1:c.1000-113_1000-112insT	NP_001304852.1:n.1000-113_1000-112insT
NM_001363840.1:c.1192-113_1192-112insT	NP_001350769.1:n.1192-113_1192-112insT
NR_134256.1:n.1282-113_1282-112insT
XM_011529977.3:c.1192-113_1192-112insT	XP_011528279.1:n.1192-113_1192-112insT
XM_011529980.3:c.1191+402_1191+403insT	XP_011528282.1:n.1191+402_1191+403insT
XM_017028636.1:c.1147-113_1147-112insT	XP_016884125.1:n.1147-113_1147-112insT
XM_017028637.1:c.1147-113_1147-112insT	XP_016884126.1:n.1147-113_1147-112insT
XM_017028638.1:c.727-113_727-112insT	XP_016884127.1:n.727-113_727-112insT
XM_017028639.2:c.727-113_727-112insT	XP_016884128.1:n.727-113_727-112insT
XM_017028640.1:c.361-113_361-112insT	XP_016884129.1:n.361-113_361-112insT
XM_024452166.1:c.1146+402_1146+403insT	XP_024307934.1:n.1146+402_1146+403insT
XR_001755176.2:n.1434-113_1434-112insT
XR_002958670.1:n.1219-113_1219-112insT
XR_937825.3:n.1279+402_1279+403insT
NM_000026.4:c.1192-113_1192-112insT MANE Select	NP_000017.1:n.1192-113_1192-112insT
NM_001363840.2:c.1192-113_1192-112insT	NP_001350769.1:n.1192-113_1192-112insT
NM_001123378.3:c.1191+402_1191+403insT	NP_001116850.1:n.1191+402_1191+403insT
NM_001317923.2:c.1000-113_1000-112insT	NP_001304852.1:n.1000-113_1000-112insT
NM_001363840.3:c.1192-113_1192-112insT	NP_001350769.1:n.1192-113_1192-112insT
NR_134256.2:n.1282-113_1282-112insT