Canonical Allele Identifier: CA634173526

Gene: SLC4A11

Linked Data

• dbSNP Id: rs1568526124
• gnomAD v2: 20-3208660-CCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCT-C
• gnomAD v3: 20-3228014-CCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCT-C
• gnomAD v4: 20-3228014-CCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCT-C
• MyVariant Identifiers: chr20:g.3208661_3208714del (hg19) ; chr20:g.3228015_3228068del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228025_3228078del , CM000682.2:g.3228025_3228078del	GRCh38
NC_000020.10:g.3208671_3208724del , CM000682.1:g.3208671_3208724del	GRCh37
NC_000020.9:g.3156671_3156724del	NCBI36
NG_017072.1:g.16174_16227del
NG_012093.2:g.24159_24212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.2558+191_2559-159del MANE Select	ENSP00000493503.1:n.2558+191_2559-159del
ENST00000644011.1:c.2489+191_2490-159del	ENSP00000496214.1:n.2489+191_2490-159del
ENST00000644692.1:c.2357+191_2358-159del	ENSP00000493824.1:n.2357+191_2358-159del
ENST00000647296.1:c.2444+191_2445-159del	ENSP00000495050.1:n.2444+191_2445-159del
ENST00000380056.7:c.2606+191_2607-159del	ENSP00000369396.3:n.2606+191_2607-159del
ENST00000380059.7:c.2687+191_2688-159del	ENSP00000369399.3:n.2687+191_2688-159del
ENST00000474451.5:c.*706+191_*707-159del	ENSP00000476859.1:n.*706+191_*707-159del
ENST00000539553.6:c.2558+191_2559-159del	ENSP00000441370.1:n.2558+191_2559-159del
NM_001174089.1:c.2558+191_2559-159del	NP_001167560.1:n.2558+191_2559-159del
NM_001174090.1:c.2687+191_2688-159del	NP_001167561.1:n.2687+191_2688-159del
NM_032034.3:c.2606+191_2607-159del	NP_114423.1:n.2606+191_2607-159del
XM_005260856.3:c.2927+191_2928-159del	XP_005260913.1:n.2927+191_2928-159del
XM_005260857.1:c.2501+191_2502-159del	XP_005260914.1:n.2501+191_2502-159del
XM_011529383.1:c.2525+191_2526-159del	XP_011527685.1:n.2525+191_2526-159del
XM_011529384.1:c.2501+191_2502-159del	XP_011527686.1:n.2501+191_2502-159del
XM_011529385.1:c.2501+191_2502-159del	XP_011527687.1:n.2501+191_2502-159del
XR_937167.1:n.2656+191_2657-159del
NM_001363745.1:c.2444+191_2445-159del	NP_001350674.1:n.2444+191_2445-159del
NR_135000.1:n.2656+191_2657-159del
XM_005260856.5:c.2927+191_2928-159del	XP_005260913.1:n.2927+191_2928-159del
XM_011529383.3:c.2525+191_2526-159del	XP_011527685.1:n.2525+191_2526-159del
XM_017028093.1:c.2921+191_2922-159del	XP_016883582.1:n.2921+191_2922-159del
XM_017028094.1:c.2501+191_2502-159del	XP_016883583.1:n.2501+191_2502-159del
XM_017028096.1:c.2501+191_2502-159del	XP_016883585.1:n.2501+191_2502-159del
XR_001754419.1:n.3101+191_3102-159del
XR_001754420.2:n.3081+191_3082-159del
NM_001174089.2:c.2558+191_2559-159del MANE Select	NP_001167560.1:n.2558+191_2559-159del
NM_001363745.2:c.2444+191_2445-159del	NP_001350674.1:n.2444+191_2445-159del
NM_001174090.2:c.2687+191_2688-159del	NP_001167561.1:n.2687+191_2688-159del
NM_032034.4:c.2606+191_2607-159del	NP_114423.1:n.2606+191_2607-159del
NM_001400277.1:c.2501+191_2502-159del	NP_001387206.1:n.2501+191_2502-159del
NM_001400278.1:c.2501+191_2502-159del	NP_001387207.1:n.2501+191_2502-159del
NM_001400279.1:c.2501+191_2502-159del	NP_001387208.1:n.2501+191_2502-159del
NM_001400280.1:c.2573+191_2574-159del	NP_001387209.1:n.2573+191_2574-159del
NR_174470.1:n.3081+191_3082-159del
NR_174471.1:n.3066+191_3067-159del