Canonical Allele Identifier: CA4570746

Gene: SLC4A2

Linked Data

• dbSNP Id: rs754107447
• ExAC: 7:150761435 T / TGGGGAGGAAGACTTTGAGTGTGA
• gnomAD v2: 7-150761435-T-TGGGGAGGAAGACTTTGAGTGTGA
• gnomAD v3: 7-151064348-T-TGGGGAGGAAGACTTTGAGTGTGA
• gnomAD v4: 7-151064348-T-TGGGGAGGAAGACTTTGAGTGTGA
• MyVariant Identifiers: chr7:g.150761435_150761436insGGGGAGGAAGACTTTGAGTGTGA (hg19) ; chr7:g.151064348_151064349insGGGGAGGAAGACTTTGAGTGTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151064353_151064375dup , CM000669.2:g.151064353_151064375dup	GRCh38
NC_000007.13:g.150761440_150761462dup , CM000669.1:g.150761440_150761462dup	GRCh37
NC_000007.12:g.150392373_150392395dup	NCBI36
NG_051947.1:g.11154_11176dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.203_217+8dup
ENST00000677246.1:c.203_217+8dup
ENST00000310317.9:c.52-252_52-230dup	ENSP00000311402.5:n.52-252_52-230dup
ENST00000392826.6:c.176_190+8dup
ENST00000413384.6:c.203_217+8dup
ENST00000461735.1:c.161_175+8dup
ENST00000463414.5:c.203_217+8dup
ENST00000482950.5:c.203_217+8dup
ENST00000483786.5:c.203_217+8dup
ENST00000485713.5:c.203_217+8dup
ENST00000490898.5:c.203_217+8dup
ENST00000494125.1:n.438_460dup
NM_001199692.1:c.203_217+8dup
NM_001199693.1:c.176_190+8dup
NM_001199694.1:c.161_175+8dup
NM_003040.3:c.203_217+8dup
XM_006716094.2:c.203_217+8dup
XM_011516497.1:c.203_217+8dup
NM_001199692.2:c.203_217+8dup
NM_001199694.2:c.161_175+8dup
XM_006716094.3:c.203_217+8dup
NM_003040.4:c.203_217+8dup
NM_001199692.3:c.203_217+8dup