Canonical Allele Identifier: CA1748892720

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339169_143339172delinsAAGG , CM000669.2:g.143339169_143339172delinsAAGG	GRCh38
NC_000007.13:g.143036262_143036265delinsAAGG , CM000669.1:g.143036262_143036265delinsAAGG	GRCh37
NC_000007.12:g.142746384_142746387delinsAAGG	NCBI36
NG_009815.1:g.28044_28047delinsAAGG
NG_009815.2:g.28044_28047delinsAAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1402-84_1402-81delinsAAGG	ENSP00000498052.2:n.1402-84_1402-81delins...
ENST00000343257.7:c.1402-84_1402-81delinsAAGG MANE Select	ENSP00000339867.2:n.1402-84_1402-81delins...
ENST00000432192.6:c.1226-84_1226-81delinsAAGG
ENST00000343257.6:c.1402-84_1402-81delinsAAGG	ENSP00000339867.2:n.1402-84_1402-81delins...
NM_000083.2:c.1402-84_1402-81delinsAAGG	NP_000074.2:n.1402-84_1402-81delinsAAGG
NR_046453.1:n.1342-84_1342-81delinsAAGG
XM_011515781.1:c.1426-84_1426-81delinsAAGG	XP_011514083.1:n.1426-84_1426-81delinsAAG...
XM_011515782.1:c.148-84_148-81delinsAAGG	XP_011514084.1:n.148-84_148-81delinsAAGG
XM_011515782.2:c.148-84_148-81delinsAAGG	XP_011514084.1:n.148-84_148-81delinsAAGG
XM_017011739.1:c.976-84_976-81delinsAAGG	XP_016867228.1:n.976-84_976-81delinsAAGG
XM_017011740.1:c.952-84_952-81delinsAAGG	XP_016867229.1:n.952-84_952-81delinsAAGG
NM_000083.3:c.1402-84_1402-81delinsAAGG MANE Select	NP_000074.3:n.1402-84_1402-81delinsAAGG
NR_046453.2:n.1357-84_1357-81delinsAAGG