Canonical Allele Identifier: CA2261308270

Gene: SLC4A1

Linked Data

• dbSNP Id: rs2047371738

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254560_44254562del , CM000679.2:g.44254560_44254562del	GRCh38
NC_000017.10:g.42331928_42331930del , CM000679.1:g.42331928_42331930del	GRCh37
NC_000017.9:g.39687454_39687456del	NCBI36
NG_007498.1:g.18574_18576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1992_1994del MANE Select	ENSP00000262418.6:p.Met664_Phe665delinsIle
ENST00000262418.10:c.1992_1994del	ENSP00000262418.6:p.Met664_Phe665delinsIle
ENST00000399246.3:c.894_896del	ENSP00000382190.3:p.Met298_Phe299delinsIle
NM_000342.3:c.1992_1994del	NP_000333.1:p.Met664_Phe665delinsIle
XM_005257593.3:c.1797_1799del	XP_005257650.1:p.Met599_Phe600delinsIle
XM_011525129.1:c.1902_1904del	XP_011523431.1:p.Met634_Phe635delinsIle
XM_011525130.1:c.1992_1994del	XP_011523432.1:p.Met664_Phe665delinsIle
XM_011525131.1:c.1992_1994del	XP_011523433.1:p.Met664_Phe665delinsIle
XM_005257593.5:c.1797_1799del	XP_005257650.1:p.Met599_Phe600delinsIle
XM_011525129.2:c.1902_1904del	XP_011523431.1:p.Met634_Phe635delinsIle
NM_000342.4:c.1992_1994del MANE Select	NP_000333.1:p.Met664_Phe665delinsIle