Canonical Allele Identifier: CA124716376

Gene: EFNA5

Linked Data

• dbSNP Id: rs983003749
• gnomAD v2: 5-106982522-TAAAGCTTATTTAAAAAGCTTCATTGTATGGG-T
• gnomAD v3: 5-107646821-TAAAGCTTATTTAAAAAGCTTCATTGTATGGG-T
• gnomAD v4: 5-107646821-TAAAGCTTATTTAAAAAGCTTCATTGTATGGG-T
• MyVariant Identifiers: chr5:g.106982523_106982553del (hg19) ; chr5:g.107646822_107646852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.107646823_107646853del , CM000667.2:g.107646823_107646853del	GRCh38
NC_000005.9:g.106982524_106982554del , CM000667.1:g.106982524_106982554del	GRCh37
NC_000005.8:g.107010423_107010453del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000333274.11:c.125+23637_125+23667del MANE Select	ENSP00000328777.6:n.125+23637_125+23667de...
ENST00000333274.10:c.125+23637_125+23667del	ENSP00000328777.6:n.125+23637_125+23667de...
ENST00000504941.1:n.397+23637_397+23667del
ENST00000509503.1:c.125+23637_125+23667del	ENSP00000426989.1:n.125+23637_125+23667de...
NM_001962.2:c.125+23637_125+23667del	NP_001953.1:n.125+23637_125+23667del
XM_006714565.1:c.125+23637_125+23667del	XP_006714628.1:n.125+23637_125+23667del
XM_006714565.3:c.125+23637_125+23667del	XP_006714628.1:n.125+23637_125+23667del
NM_001962.3:c.125+23637_125+23667del MANE Select	NP_001953.1:n.125+23637_125+23667del