Canonical Allele Identifier: CA2576289304

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44258415_44258416del , CM000679.2:g.44258415_44258416del	GRCh38
NC_000017.10:g.42335783_42335784del , CM000679.1:g.42335783_42335784del	GRCh37
NC_000017.9:g.39691309_39691310del	NCBI36
NG_007498.1:g.14719_14720del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.1084_1085del MANE Select	ENSP00000262418.6:p.Leu362ArgfsTer8
ENST00000262418.10:c.1084_1085del	ENSP00000262418.6:p.Leu362ArgfsTer8
ENST00000399246.3:c.777+846_777+847del	ENSP00000382190.3:n.777+846_777+847del
ENST00000497360.5:n.1223_1224del
NM_000342.3:c.1084_1085del	NP_000333.1:p.Leu362ArgfsTer8
XM_005257593.3:c.889_890del	XP_005257650.1:p.Leu297ArgfsTer8
XM_011525129.1:c.1084_1085del	XP_011523431.1:p.Leu362ArgfsTer8
XM_011525130.1:c.1084_1085del	XP_011523432.1:p.Leu362ArgfsTer8
XM_011525131.1:c.1084_1085del	XP_011523433.1:p.Leu362ArgfsTer8
XM_005257593.5:c.889_890del	XP_005257650.1:p.Leu297ArgfsTer8
XM_011525129.2:c.1084_1085del	XP_011523431.1:p.Leu362ArgfsTer8
NM_000342.4:c.1084_1085del MANE Select	NP_000333.1:p.Leu362ArgfsTer8