Canonical Allele Identifier: CA1748898294

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351709_143351714delinsCAGAGA , CM000669.2:g.143351709_143351714delinsCAGAGA	GRCh38
NC_000007.13:g.143048802_143048807delinsCAGAGA , CM000669.1:g.143048802_143048807delinsCAGAGA	GRCh37
NC_000007.12:g.142758924_142758929delinsCAGAGA	NCBI36
NG_009815.1:g.40584_40589delinsCAGAGA
NG_009815.2:g.40584_40589delinsCAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2711_2716delinsCAGAGA	ENSP00000498052.2:p.Ala904=
ENST00000343257.7:c.2711_2716delinsCAGAGA MANE Select	ENSP00000339867.2:p.Ala904=
ENST00000432192.6:c.2535_2540delinsCAGAGA
ENST00000343257.6:c.2711_2716delinsCAGAGA	ENSP00000339867.2:p.Ala904=
NM_000083.2:c.2711_2716delinsCAGAGA	NP_000074.2:p.Ala904=
NR_046453.1:n.2651_2656delinsCAGAGA
XM_011515781.1:c.2735_2740delinsCAGAGA	XP_011514083.1:p.Ala912=
XM_011515782.1:c.1457_1462delinsCAGAGA	XP_011514084.1:p.Ala486=
XM_011515782.2:c.1457_1462delinsCAGAGA	XP_011514084.1:p.Ala486=
XM_017011739.1:c.2285_2290delinsCAGAGA	XP_016867228.1:p.Ala762=
XM_017011740.1:c.2261_2266delinsCAGAGA	XP_016867229.1:p.Ala754=
NM_000083.3:c.2711_2716delinsCAGAGA MANE Select	NP_000074.3:p.Ala904=
NR_046453.2:n.2666_2671delinsCAGAGA