Canonical Allele Identifier: CA4432847

Gene: SLC26A4

Linked Data

• dbSNP Id: rs758111524
• ExAC: 7:107336514 A / AGAAATG
• MyVariant Identifiers: chr7:g.107336514_107336515insGAAATG (hg19) ; chr7:g.107696069_107696070insGAAATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107696069_107696070insGAAATG , CM000669.2:g.107696069_107696070insGAAATG	GRCh38
NC_000007.13:g.107336514_107336515insGAAATG , CM000669.1:g.107336514_107336515insGAAATG	GRCh37
NC_000007.12:g.107123750_107123751insGAAATG	NCBI36
NG_008489.1:g.40435_40436insGAAATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1544+30_1544+31insGAAATG MANE Select	ENSP00000494017.1:n.1544+30_1544+31insGAA...
ENST00000644846.1:c.255+30_255+31insGAAATG
ENST00000265715.7:c.1544+30_1544+31insGAAATG	ENSP00000265715.3:n.1544+30_1544+31insGAA...
ENST00000477350.5:n.391+30_391+31insGAAATG
ENST00000480841.5:n.393+30_393+31insGAAATG
NM_000441.1:c.1544+30_1544+31insGAAATG	NP_000432.1:n.1544+30_1544+31insGAAATG
XM_005250425.1:c.1544+30_1544+31insGAAATG	XP_005250482.1:n.1544+30_1544+31insGAAATG...
XM_005250425.2:c.1544+30_1544+31insGAAATG	XP_005250482.1:n.1544+30_1544+31insGAAATG...
XM_017012318.1:c.1466+30_1466+31insGAAATG	XP_016867807.1:n.1466+30_1466+31insGAAATG...
NM_000441.2:c.1544+30_1544+31insGAAATG MANE Select	NP_000432.1:n.1544+30_1544+31insGAAATG