Canonical Allele Identifier: CA803031367

Gene: LOX SRFBP1

Linked Data

• dbSNP Id: rs1255805227
• gnomAD v3: 5-122070273-TTAAG-T
• gnomAD v4: 5-122070273-TTAAG-T
• MyVariant Identifiers: chr5:g.121405969_121405972del (hg19) ; chr5:g.122070274_122070277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070279_122070282del , CM000667.2:g.122070279_122070282del	GRCh38
NC_000005.9:g.121405974_121405977del , CM000667.1:g.121405974_121405977del	GRCh37
NC_000005.8:g.121433873_121433876del	NCBI36
NG_008722.1:g.13084_13087del

Transcript Alleles

HGVS	Amino-acid change
ENST00000231004.5:c.1132-109_1132-106del (LOX) MANE Select	ENSP00000231004.4:n.1132-109_1132-106del
ENST00000639739.2:c.*324-109_*324-106del (LOX)	ENSP00000492324.2:n.*324-109_*324-106del
ENST00000231004.4:c.1132-109_1132-106del (LOX)	ENSP00000231004.4:n.1132-109_1132-106del
ENST00000503759.5:n.723-109_723-106del (LOX)
ENST00000504881.1:n.312-5036_312-5033del (SRFBP1)
ENST00000505593.5:n.458-109_458-106del (LOX)
ENST00000513319.5:n.475-109_475-106del (LOX)
NM_001178102.1:c.442-109_442-106del (LOX)	NP_001171573.1:n.442-109_442-106del
NM_001178102.2:c.442-109_442-106del (LOX)	NP_001171573.1:n.442-109_442-106del
NM_001317073.1:c.241-109_241-106del (LOX)	NP_001304002.1:n.241-109_241-106del
NM_002317.5:c.1132-109_1132-106del (LOX)	NP_002308.2:n.1132-109_1132-106del
NM_002317.6:c.1132-109_1132-106del (LOX)	NP_002308.2:n.1132-109_1132-106del
XM_017009111.2:c.1106-5036_1106-5033del (SRFBP1)	XP_016864600.2:n.1106-5036_1106-5033del
NM_002317.7:c.1132-109_1132-106del (LOX) MANE Select	NP_002308.2:n.1132-109_1132-106del