Canonical Allele Identifier: CA1748893870

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341831_143341833delinsATG , CM000669.2:g.143341831_143341833delinsATG	GRCh38
NC_000007.13:g.143038924_143038926delinsATG , CM000669.1:g.143038924_143038926delinsATG	GRCh37
NC_000007.12:g.142749046_142749048delinsATG	NCBI36
NG_009815.1:g.30706_30708delinsATG
NG_009815.2:g.30706_30708delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-98_1583-96delinsATG	ENSP00000498052.2:n.1583-98_1583-96delinsATG
ENST00000343257.7:c.1583-98_1583-96delinsATG MANE Select	ENSP00000339867.2:n.1583-98_1583-96delinsATG
ENST00000432192.6:c.1407-98_1407-96delinsATG
ENST00000343257.6:c.1583-98_1583-96delinsATG	ENSP00000339867.2:n.1583-98_1583-96delinsATG
NM_000083.2:c.1583-98_1583-96delinsATG	NP_000074.2:n.1583-98_1583-96delinsATG
NR_046453.1:n.1523-98_1523-96delinsATG
XM_011515781.1:c.1607-98_1607-96delinsATG	XP_011514083.1:n.1607-98_1607-96delinsATG
XM_011515782.1:c.329-98_329-96delinsATG	XP_011514084.1:n.329-98_329-96delinsATG
XM_011515782.2:c.329-98_329-96delinsATG	XP_011514084.1:n.329-98_329-96delinsATG
XM_017011739.1:c.1157-98_1157-96delinsATG	XP_016867228.1:n.1157-98_1157-96delinsATG
XM_017011740.1:c.1133-98_1133-96delinsATG	XP_016867229.1:n.1133-98_1133-96delinsATG
NM_000083.3:c.1583-98_1583-96delinsATG MANE Select	NP_000074.3:n.1583-98_1583-96delinsATG
NR_046453.2:n.1538-98_1538-96delinsATG