Canonical Allele Identifier: CA1748893833

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341751_143341754delinsAATG , CM000669.2:g.143341751_143341754delinsAATG	GRCh38
NC_000007.13:g.143038844_143038847delinsAATG , CM000669.1:g.143038844_143038847delinsAATG	GRCh37
NC_000007.12:g.142748966_142748969delinsAATG	NCBI36
NG_009815.1:g.30626_30629delinsAATG
NG_009815.2:g.30626_30629delinsAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-178_1583-175delinsAATG	ENSP00000498052.2:n.1583-178_1583-175delinsAATG
ENST00000343257.7:c.1583-178_1583-175delinsAATG MANE Select	ENSP00000339867.2:n.1583-178_1583-175delinsAATG
ENST00000432192.6:c.1407-178_1407-175delinsAATG
ENST00000343257.6:c.1583-178_1583-175delinsAATG	ENSP00000339867.2:n.1583-178_1583-175delinsAATG
NM_000083.2:c.1583-178_1583-175delinsAATG	NP_000074.2:n.1583-178_1583-175delinsAATG
NR_046453.1:n.1523-178_1523-175delinsAATG
XM_011515781.1:c.1607-178_1607-175delinsAATG	XP_011514083.1:n.1607-178_1607-175delinsAATG
XM_011515782.1:c.329-178_329-175delinsAATG	XP_011514084.1:n.329-178_329-175delinsAATG
XM_011515782.2:c.329-178_329-175delinsAATG	XP_011514084.1:n.329-178_329-175delinsAATG
XM_017011739.1:c.1157-178_1157-175delinsAATG	XP_016867228.1:n.1157-178_1157-175delinsAATG
XM_017011740.1:c.1133-178_1133-175delinsAATG	XP_016867229.1:n.1133-178_1133-175delinsAATG
NM_000083.3:c.1583-178_1583-175delinsAATG MANE Select	NP_000074.3:n.1583-178_1583-175delinsAATG
NR_046453.2:n.1538-178_1538-175delinsAATG