Canonical Allele Identifier: CA905811018

Gene: SLC4A7

Linked Data

• dbSNP Id: rs1405478252
• gnomAD v3: 3-27374461-TTTGA-T
• gnomAD v4: 3-27374461-TTTGA-T
• MyVariant Identifiers: chr3:g.27415953_27415956del (hg19) ; chr3:g.27374462_27374465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.27374464_27374467del , CM000665.2:g.27374464_27374467del	GRCh38
NC_000003.11:g.27415955_27415958del , CM000665.1:g.27415955_27415958del	GRCh37
NC_000003.10:g.27390959_27390962del	NCBI36
NG_032673.1:g.114956_114959del

Transcript Alleles

HGVS	Amino-acid change
ENST00000454389.6:c.*2299_*2302del MANE Select	ENSP00000390394.1:n.*2299_*2302del
ENST00000295736.9:c.*2299_*2302del	ENSP00000295736.5:n.*2299_*2302del
ENST00000419036.5:c.4705_4708del	ENSP00000411031.1:n.4705_4708del
ENST00000425128.6:c.*2299_*2302del	ENSP00000401949.3:n.*2299_*2302del
ENST00000428386.5:c.*2299_*2302del	ENSP00000416368.1:n.*2299_*2302del
NM_001258379.1:c.*2299_*2302del	NP_001245308.1:n.*2299_*2302del
NM_001258380.1:c.*2299_*2302del	NP_001245309.1:n.*2299_*2302del
NM_003615.4:c.*2299_*2302del	NP_003606.3:n.*2299_*2302del
XM_005265598.3:c.*2299_*2302del	XP_005265655.1:n.*2299_*2302del
XM_005265600.3:c.*2299_*2302del	XP_005265657.1:n.*2299_*2302del
XM_005265601.1:c.*2299_*2302del	XP_005265658.1:n.*2299_*2302del
XM_006713421.1:c.*2299_*2302del	XP_006713484.1:n.*2299_*2302del
XM_011534255.1:c.*2299_*2302del	XP_011532557.1:n.*2299_*2302del
XM_011534256.1:c.*2299_*2302del	XP_011532558.1:n.*2299_*2302del
XM_011534257.1:c.*2299_*2302del	XP_011532559.1:n.*2299_*2302del
XM_011534258.1:c.*2299_*2302del	XP_011532560.1:n.*2299_*2302del
XM_011534259.1:c.*2299_*2302del	XP_011532561.1:n.*2299_*2302del
XM_011534260.1:c.*2299_*2302del	XP_011532562.1:n.*2299_*2302del
XM_011534261.1:c.*2299_*2302del	XP_011532563.1:n.*2299_*2302del
XM_011534262.1:c.*2299_*2302del	XP_011532564.1:n.*2299_*2302del
XM_011534263.1:c.*2299_*2302del	XP_011532565.1:n.*2299_*2302del
XM_011534264.1:c.*2299_*2302del	XP_011532566.1:n.*2299_*2302del
XM_011534265.1:c.*2299_*2302del	XP_011532567.1:n.*2299_*2302del
NM_001321103.1:c.*2299_*2302del	NP_001308032.1:n.*2299_*2302del
NM_001321104.1:c.*2299_*2302del	NP_001308033.1:n.*2299_*2302del
NM_001321105.1:c.*2299_*2302del	NP_001308034.1:n.*2299_*2302del
NM_001321106.1:c.*2299_*2302del	NP_001308035.1:n.*2299_*2302del
NM_001321107.1:c.*2299_*2302del	NP_001308036.1:n.*2299_*2302del
NM_001321108.1:c.*2299_*2302del	NP_001308037.1:n.*2299_*2302del
NR_135541.1:n.6039_6042del
NR_135542.1:n.5814_5817del
NR_135543.1:n.5706_5709del
NR_135544.1:n.6147_6150del
XM_005265598.5:c.*2299_*2302del	XP_005265655.1:n.*2299_*2302del
XM_005265600.5:c.*2299_*2302del	XP_005265657.1:n.*2299_*2302del
XM_006713421.3:c.*2299_*2302del	XP_006713484.1:n.*2299_*2302del
XM_011534256.3:c.*2299_*2302del	XP_011532558.1:n.*2299_*2302del
XM_011534258.2:c.*2299_*2302del	XP_011532560.1:n.*2299_*2302del
XM_011534261.3:c.*2299_*2302del	XP_011532563.1:n.*2299_*2302del
XM_011534263.3:c.*2299_*2302del	XP_011532565.1:n.*2299_*2302del
XM_011534265.2:c.*2299_*2302del	XP_011532567.1:n.*2299_*2302del
XM_017007526.2:c.*2299_*2302del	XP_016863015.1:n.*2299_*2302del
XM_017007527.2:c.*2299_*2302del	XP_016863016.1:n.*2299_*2302del
XM_017007528.1:c.*2299_*2302del	XP_016863017.1:n.*2299_*2302del
XM_017007529.1:c.*2299_*2302del	XP_016863018.1:n.*2299_*2302del
XR_001740371.2:n.5812_5815del
XR_001740372.2:n.5704_5707del
NM_001258379.2:c.*2299_*2302del	NP_001245308.1:n.*2299_*2302del
NM_001258380.2:c.*2299_*2302del	NP_001245309.1:n.*2299_*2302del
NM_001321103.2:c.*2299_*2302del MANE Select	NP_001308032.1:n.*2299_*2302del
NM_001321104.2:c.*2299_*2302del	NP_001308033.1:n.*2299_*2302del
NM_001321105.2:c.*2299_*2302del	NP_001308034.1:n.*2299_*2302del
NM_001321106.2:c.*2299_*2302del	NP_001308035.1:n.*2299_*2302del
NM_001321107.2:c.*2299_*2302del	NP_001308036.1:n.*2299_*2302del
NM_001321108.2:c.*2299_*2302del	NP_001308037.1:n.*2299_*2302del
NM_003615.5:c.*2299_*2302del	NP_003606.3:n.*2299_*2302del
NR_135541.2:n.6003_6006del
NR_135542.2:n.5778_5781del
NR_135543.2:n.5670_5673del
NR_135544.2:n.6111_6114del