Canonical Allele Identifier: CA634329253

Gene: SLC4A11

Linked Data

• dbSNP Id: rs1481698522
• gnomAD v2: 20-3208912-G-GGATCATGGC
• gnomAD v4: 20-3228266-G-GGATCATGGC
• MyVariant Identifiers: chr20:g.3208912_3208913insGATCATGGC (hg19) ; chr20:g.3228266_3228267insGATCATGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228274_3228282dup , CM000682.2:g.3228274_3228282dup	GRCh38
NC_000020.10:g.3208920_3208928dup , CM000682.1:g.3208920_3208928dup	GRCh37
NC_000020.9:g.3156920_3156928dup	NCBI36
NG_017072.1:g.15967_15975dup
NG_012093.2:g.24408_24416dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2542_2550dup MANE Select	ENSP00000493503.1:p.Ile850_Pro851insAlaMe...
ENST00000644011.1:c.2473_2481dup	ENSP00000496214.1:p.Ile827_Pro828insAlaMe...
ENST00000644692.1:c.2341_2349dup	ENSP00000493824.1:p.Ile783_Pro784insAlaMe...
ENST00000647296.1:c.2428_2436dup	ENSP00000495050.1:p.Ile812_Pro813insAlaMe...
ENST00000380056.7:c.2590_2598dup	ENSP00000369396.3:p.Ile866_Pro867insAlaMe...
ENST00000380059.7:c.2671_2679dup	ENSP00000369399.3:p.Ile893_Pro894insAlaMe...
ENST00000474451.5:c.*690_*698dup	ENSP00000476859.1:n.*690_*698dup
ENST00000539553.6:c.2542_2550dup	ENSP00000441370.1:p.Ile850_Pro851insAlaMe...
NM_001174089.1:c.2542_2550dup	NP_001167560.1:p.Ile850_Pro851insAlaMetIl...
NM_001174090.1:c.2671_2679dup	NP_001167561.1:p.Ile893_Pro894insAlaMetIl...
NM_032034.3:c.2590_2598dup	NP_114423.1:p.Ile866_Pro867insAlaMetIle
XM_005260856.3:c.2911_2919dup	XP_005260913.1:p.Ile973_Pro974insAlaMetIl...
XM_005260857.1:c.2485_2493dup	XP_005260914.1:p.Ile831_Pro832insAlaMetIl...
XM_011529383.1:c.2509_2517dup	XP_011527685.1:p.Ile839_Pro840insAlaMetIl...
XM_011529384.1:c.2485_2493dup	XP_011527686.1:p.Ile831_Pro832insAlaMetIl...
XM_011529385.1:c.2485_2493dup	XP_011527687.1:p.Ile831_Pro832insAlaMetIl...
XR_937167.1:n.2640_2648dup
NM_001363745.1:c.2428_2436dup	NP_001350674.1:p.Ile812_Pro813insAlaMetIl...
NR_135000.1:n.2640_2648dup
XM_005260856.5:c.2911_2919dup	XP_005260913.1:p.Ile973_Pro974insAlaMetIl...
XM_011529383.3:c.2509_2517dup	XP_011527685.1:p.Ile839_Pro840insAlaMetIl...
XM_017028093.1:c.2905_2913dup	XP_016883582.1:p.Ile971_Pro972insAlaMetIl...
XM_017028094.1:c.2485_2493dup	XP_016883583.1:p.Ile831_Pro832insAlaMetIl...
XM_017028096.1:c.2485_2493dup	XP_016883585.1:p.Ile831_Pro832insAlaMetIl...
XR_001754419.1:n.3085_3093dup
XR_001754420.2:n.3065_3073dup
NM_001174089.2:c.2542_2550dup MANE Select	NP_001167560.1:p.Ile850_Pro851insAlaMetIl...
NM_001363745.2:c.2428_2436dup	NP_001350674.1:p.Ile812_Pro813insAlaMetIl...
NM_001174090.2:c.2671_2679dup	NP_001167561.1:p.Ile893_Pro894insAlaMetIl...
NM_032034.4:c.2590_2598dup	NP_114423.1:p.Ile866_Pro867insAlaMetIle
NM_001400277.1:c.2485_2493dup	NP_001387206.1:p.Ile831_Pro832insAlaMetIl...
NM_001400278.1:c.2485_2493dup	NP_001387207.1:p.Ile831_Pro832insAlaMetIl...
NM_001400279.1:c.2485_2493dup	NP_001387208.1:p.Ile831_Pro832insAlaMetIl...
NM_001400280.1:c.2557_2565dup	NP_001387209.1:p.Ile855_Pro856insAlaMetIl...
NR_174470.1:n.3065_3073dup
NR_174471.1:n.3050_3058dup