Canonical Allele Identifier: CA117133906

Gene: LIFR

Linked Data

• dbSNP Id: rs972795829
• gnomAD v4: 5-38481600-CGTTTG-C
• MyVariant Identifiers: chr5:g.38481703_38481707del (hg19) ; chr5:g.38481601_38481605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38481606_38481610del , CM000667.2:g.38481606_38481610del	GRCh38
NC_000005.9:g.38481708_38481712del , CM000667.1:g.38481708_38481712del	GRCh37
NC_000005.8:g.38517465_38517469del	NCBI36
NG_011817.1:g.118801_118805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.3284_3288del MANE Select	ENSP00000398368.2:p.Pro1095ArgfsTer15
ENST00000263409.8:c.3284_3288del	ENSP00000263409.4:p.Pro1095ArgfsTer15
ENST00000453190.6:c.3284_3288del	ENSP00000398368.2:p.Pro1095ArgfsTer15
NM_001127671.1:c.3284_3288del	NP_001121143.1:p.Pro1095ArgfsTer15
NM_002310.5:c.3284_3288del	NP_002301.1:p.Pro1095ArgfsTer15
XM_011514040.1:c.3284_3288del	XP_011512342.1:p.Pro1095ArgfsTer15
XM_011514041.1:c.3284_3288del	XP_011512343.1:p.Pro1095ArgfsTer15
XM_011514042.1:c.3284_3288del	XP_011512344.1:p.Pro1095ArgfsTer15
NM_001364297.1:c.3284_3288del	NP_001351226.1:p.Pro1095ArgfsTer15
NM_001364298.1:c.3251_3255del	NP_001351227.1:p.Pro1084ArgfsTer15
XM_011514042.3:c.3284_3288del	XP_011512344.1:p.Pro1095ArgfsTer15
XM_017009462.1:c.3338_3342del	XP_016864951.1:p.Pro1113ArgfsTer15
XM_017009463.1:c.3284_3288del	XP_016864952.1:p.Pro1095ArgfsTer15
NM_001127671.2:c.3284_3288del MANE Select	NP_001121143.1:p.Pro1095ArgfsTer15
NM_002310.6:c.3284_3288del	NP_002301.1:p.Pro1095ArgfsTer15
NM_001364297.2:c.3284_3288del	NP_001351226.1:p.Pro1095ArgfsTer15
NM_001364298.2:c.3251_3255del	NP_001351227.1:p.Pro1084ArgfsTer15