Canonical Allele Identifier: CA1748898206

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351511_143351516delinsGTTCTT , CM000669.2:g.143351511_143351516delinsGTTCTT	GRCh38
NC_000007.13:g.143048604_143048609delinsGTTCTT , CM000669.1:g.143048604_143048609delinsGTTCTT	GRCh37
NC_000007.12:g.142758726_142758731delinsGTTCTT	NCBI36
NG_009815.1:g.40386_40391delinsGTTCTT
NG_009815.2:g.40386_40391delinsGTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-83_2596-78delinsGTTCTT	ENSP00000498052.2:n.2596-83_2596-78delinsGTTCTT
ENST00000343257.7:c.2596-83_2596-78delinsGTTCTT MANE Select	ENSP00000339867.2:n.2596-83_2596-78delinsGTTCTT
ENST00000432192.6:c.2420-83_2420-78delinsGTTCTT
ENST00000343257.6:c.2596-83_2596-78delinsGTTCTT	ENSP00000339867.2:n.2596-83_2596-78delinsGTTCTT
NM_000083.2:c.2596-83_2596-78delinsGTTCTT	NP_000074.2:n.2596-83_2596-78delinsGTTCTT
NR_046453.1:n.2536-83_2536-78delinsGTTCTT
XM_011515781.1:c.2620-83_2620-78delinsGTTCTT	XP_011514083.1:n.2620-83_2620-78delinsGTTCTT
XM_011515782.1:c.1342-83_1342-78delinsGTTCTT	XP_011514084.1:n.1342-83_1342-78delinsGTTCTT
XM_011515782.2:c.1342-83_1342-78delinsGTTCTT	XP_011514084.1:n.1342-83_1342-78delinsGTTCTT
XM_017011739.1:c.2170-83_2170-78delinsGTTCTT	XP_016867228.1:n.2170-83_2170-78delinsGTTCTT
XM_017011740.1:c.2146-83_2146-78delinsGTTCTT	XP_016867229.1:n.2146-83_2146-78delinsGTTCTT
NM_000083.3:c.2596-83_2596-78delinsGTTCTT MANE Select	NP_000074.3:n.2596-83_2596-78delinsGTTCTT
NR_046453.2:n.2551-83_2551-78delinsGTTCTT